CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

OBJECTIVES: To explore a potential expansion of the phenotypic and genotypic characteristics of Finnish variant late-infantile neuronal ceroid lipofuscinosis (NCL), we screened a collection of 47 patients with clinically diagnosed NCL in whom no molecular diagnosis had been made. METHODS: We used PCR amplification of genomic DNA, followed by fluorescent-labeled dideoxy-nucleotide chain termination sequencing and multiplex ligation-dependent probe amplification, to screen our cohort of patients for mutations in CLN5. We collected ethnic background, clinical, and pathologic information, as available, to clarify the breadth of CLN5 disease expression and to explore possible genotype-phenotype correlations. RESULTS: We identified 10 patients with pathogenic CLN5 mutations, including 11 mutations not previously described: 4 missense, 5 out-of-frame insertion/deletion mutations, and 2 large intragenic deletions. We also documented 3 previously reported CLN5 mutations. The age at disease onset in this cohort is predominantly juvenile rather than late infantile. Importantly, we have identified 2 adult-onset patients who share a common pathogenic allele. The majority of patients presented with motor and visual impairments and not seizures. In those patients with available longitudinal data, most had progressed to global neurodevelopmental and visual failure with seizures within 1 to 4 years. CONCLUSIONS: Our study suggests that CLN5 mutations 1) are more common in patients with neuronal ceroid lipofuscinosis (NCL) than previously reported, 2) are found in non-Finnish NCL patients of broad ethnic diversity, and 3) can be identified in NCL patients with disease onset in adult and juvenile epochs. CLN5 genetic testing is warranted in a wider population with clinical and pathologic features suggestive of an NCL disorder.

Nutritional status classification in the Department of Veterans Affairs.

The Department of Veterans Affairs (VA) Nutrition Status Classification scheme uses clinical data that are routinely collected on admission or shortly thereafter for quick inpatient nutrition screening. In this scheme, patients are assigned to 1 of 4 classification levels according to 7 individual indicators. The indicators include nutrition history, unintentional weight loss as a percent of usual body weight, percent of ideal body weight, diet, diagnosis, albumin, and total lymphocyte count. After ratings (1 to 4) are assigned to each of the 7 indicators, overall nutritional status for each patient is determined by an algorithm. The VA classification system includes many of the same criteria used in other nutritional status classifications. Where it differs is in the greater emphasis on the use of objective criteria and in the rigorous evaluation of reliability and validity that went into its development. Because of these extra measures, the VA classification can be used for prioritizing workload, as well as for determining staff requirements and for comparing workload and productivity across health care facilities. So that others might benefit from using this system, this article provides information on how the classification scheme was developed and explains how it is used.

Women as mothers and grandmothers.

This chapter analyzes the literature on women as mothers; research reports published between January 1985 and December 1999 were reviewed. As in the past, almost all of the extant studies analyzed the experience of mothers in their children's first year of life. Although therapeutic suggestions were made in many studies, relatively few interventions have been implemented and evaluated. More studies are needed that go beyond traditional family forms and that explore mothers' role development over the full course of their children's growth and development. Additional longitudinal research that views maternal role development as a process is indicated.

Comparison of professional judgment versus an algorithm for nutrition status classification.

OBJECTIVES: The classification of a patient's nutrition status is important for identifying patients who require nutrition care, for designing effective nutrition interventions, and for measuring severity of illness. The objective of this study was to evaluate the reliability and validity of two variants of the Department of Veterans Affairs' nutrition status classification: professional judgment versus an algorithm. METHODS: The study consisted of two phases, both of which included providing a sample of approximately 60 registered dietitians and 60 clinical dietetic technicians with data on 16 (phase I) and 20 (phase II) patients, to which they assigned nutrition statuses using both professional judgment and the algorithm. Improvements in instructions and training were implemented between the two phases. Interrater reliability of the responses was calculated, and content validity was measured by comparing the staff's responses with those of an expert panel. RESULTS: Reliability improved significantly between phases for both professional judgment and the algorithm. Greater reliability and validity were observed with use of the algorithm, by both dietitians and technicians, during both phases. CONCLUSION: Classification of a patient's nutrition status is important in the delivery of cost-effective health care. The Department of Veterans Affairs' nutrition status classification is a good one for assessing nutrition status quickly and reliably, especially when an algorithm is used. The results underscore the advantages of a classification system based on an algorithm when the system is designed to be used by many different staff across multiple facilities.

Psychosocial care needs of parents of children with new-onset seizures. 3.

The Parent Report of Psychosocial Care was developed to address the concerns, needs for care and satisfaction with care received of parents of children with new-onset seizures. Parents were interviewed three months and six months after their child's first seizures using the instrument. Mothers especially identified continued needs for information and support and were worried about unlikely events such as brain tumors and death. The results from this study indicate that parents' needs for information and support need to be assessed at every encounter with the health care system during the first 6 months after the child's first seizure.

Use of an east end children's accident and emergency department for infants: a failure of primary health care?

OBJECTIVE: To ascertain why parents use an accident and emergency department for health care for their infants. DESIGN: Prospective one month study. SETTING: One accident and emergency department of a children's hospital in the east end of London. SUBJECTS: Parents of 159 infants aged < 9 months attending as self referrals (excluding infants attending previously or inpatients within one month, parents advised by the hospital to attend if concerned about their child's health, infants born abroad and arrived in Britain within the previous month). MAIN MEASURES: Details of birth, postnatal hospital stay, contact with health professionals, perceptions of roles of community midwife and health visitor, and current attendance obtained from a semistructured questionnaire administered in the department by a research health visitor; diagnosis, discharge, and follow up. RESULTS: 152(96%) parents were interviewed, 43(28%) of whom were single parent and 68(45%) first time mothers. Presenting symptoms included diarrhoea or vomiting, or both (34, 22%), crying (21, 14%), and feeding difficulties (10, 7%). Respiratory or gastrointestinal infection was diagnosed in 70(46%) infants. Only 17(11%) infants were admitted; hospital follow up was arranged for 27(20%) infants not admitted. Most (141, 94%) parents were registered with a general practitioner; 146(27%) had contact with the community midwife and 135(89%) the health visitor. CONCLUSION: Most attendances were for problems more appropriately dealt with by primary care professionals owing to patients' perceptions of hospital and primary health care services. IMPLICATIONS: Closer cooperation within the health service is needed to provide a service responsive to the real needs of patients.

Measuring symbolic play style in infancy: a methodological approach.

Researchers have examined symbolic play style as a qualitative variable distinguishing two groups of children: patterners and dramatists. We have conceptualized style not as a typology of children but as reflecting dimensions of difference between children which are amenable to quantitative analysis. For the construct of style to be invoked, it must be measurable by many variables, it must be observable over time, and it ought to be demonstrably independent of general developmental level. Fifteen boys and 15 girls were each seen twice, once at 21 months of age and again 6 weeks later. The Session 2 pattern of correlations among hypothesized dramatist measures was not entirely consistent with that observed at Session 1; however, three measures, narrative vocalizations, spontaneous play, and elicited-appropriate play were primary dramatist measures at both sessions.

Behavioral consequences of prenatal diazepam exposure in rats.

Diazepam was administered to gravid rat dams on days 13 through 20 of gestation, at either 1 or 5 mg/kg/day. Pups were observed on several behavioral paradigms throughout the preweaning period. The high dose resulted in a failure to maintain weight gain at the same rate as controls. Additionally, this dose produced a deficit in the ability of 8-day-old pups to autonomically thermoregulate. Female littermates of these pups displayed altered habituation behavior on a holeboard apparatus when tested on postnatal day 12 (PN 12). The low dose attenuated the normal drop in body temperature produced by removal of the pup from its home cage on PN8. This dose also slightly decreased responding on a photocell activity task on PN15. Neither dose was found to affect muscle strength, as measured by hang time. The results suggest that the postnatal effects of prenatal diazepam exposure are dose-specific, in that low dose treatment leads to a different type of behavioral consequence than does exposure to higher doses.

Some diets that meet the Dietary Goals for the United States.

Few people in the United States have diets with proportions of complex carbohydrate as high and proportions of protein, fat, and sugar as low as proposed in the second edition of the Dietary Goals for the United States by the Senate Select Committee on Nutrition and Human Needs. Sample diets, including low-calorie diets for adults, were planned to meet the Recommended Dietary Allowances and the Dietary Goals. Two possible "first steps" in modifying diets to meet the Goals explored the use of: (a) Specified ranges rather than specific Goals and (b) some but not all of the Goals.