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Biomedical subjects

S Leff

Publications and source records attributed to S Leff.

At least 19 recordsLinked to original sources
PubMed1998

Developing guidelines for community child health staff and examining the referral pathways and outcomes of care in the support of emotionally and behaviourally disturbed children.

The East Sussex Public Health Commissioners had enquired whether referral guidelines were needed to ensure that the children with the greatest concerns achieved support from the Child and Adolescent Mental Health Services (CAMHS). Community child health doctors and nurses recorded all contacts with children with emotional and behavioural difficulties (EBD) over a one month period. Data on presenting difficulties and on intervention pathways were recorded. The same children were reviewed five months later and the outcome was measured by clinical assessment and by support offered. The work showed that child health staff were managing cases both through single advisory sessions and through planned on-going support. Additionally, the use of the three tier pathways recommended by the Department of Health was demonstrated. Analysis of recorded data was used to describe referral pathways and to give guidance on the characteristics of children who needed referral to CAMHS.

Attention Deficit and Disruptive Behavior Disorder↗
PubMed1998

A mouse model for Prader-Willi syndrome imprinting-centre mutations.

Imprinting in the 15q11-q13 region involves an 'imprinting centre' (IC), mapping in part to the promoter and first exon of SNRPN. Deletion of this IC abolishes local paternally derived gene expression and results in Prader-Willi syndrome (PWS). We have created two deletion mutations in mice to understand PWS and the mechanism of this IC. Mice harbouring an intragenic deletion in Snrpn are phenotypically normal, suggesting that mutations of SNRPN are not sufficient to induce PWS. Mice with a larger deletion involving both Snrpn and the putative PWS-IC lack expression of the imprinted genes Zfp127 (mouse homologue of ZNF127), Ndn and Ipw, and manifest several phenotypes common to PWS infants. These data demonstrate that both the position of the IC and its role in the coordinate expression of genes is conserved between mouse and human, and indicate that the mouse is a suitable model system in which to investigate the molecular mechanisms of imprinting in this region of the genome.

Animals↗
PubMed1996

Audit of school entry health assessments: to maximise efficient use of health personnel at school entry assessments at 5 years.

During the last 3 years in which doctors saw all school entrants, the decisions made about each child on examination were recorded and a protocol about decision-making to support children with health needs was drawn up. In September 1994, school entry health care assessments by the school nurses were introduced. Having previously recorded the numbers in each school who required medical interest and support, it was possible to rationalise which schools should be the primary responsibility of the nurses, which should retain medical contact for all children and in which schools assessments should be shared. The outcomes in decision making after introducing nurse assessments were recorded in the same format as used by the doctors, so that the effect of passing responsibility to nurse colleagues could be assessed. The findings suggested that an equivalent number of children were referred to other services or selected for continuing review. However, the proportion of children whose needs were discussed with the headteacher without the children being selected for review was reduced. Issues to take forward were identified.

Child, Preschool↗
PubMed1995

Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics.

With improvements in culturing and banding techniques, amniotic fluid studies now achieve a level of resolution at which the Prader-Willi syndrome (PWS) and Angelman syndrome (AS) region may be questioned. Chromosome 15 heteromorphisms, detected with Q- and R-banding and used in conjunction with PWS/AS region-specific probes, can confirm a chromosome deletion and establish origin to predict the clinical outcome. We report four de novo cases of an abnormal-appearing chromosome 15 in amniotic fluid samples referred for advanced maternal age or a history of a previous chromosomally abnormal child. The chromosomes were characterized using G-, Q-, and R-banding, as well as isotopic and fluorescent in situ hybridization of DNA probes specific for the proximal chromosome 15 long arm. In two cases, one chromosome 15 homolog showed a consistent deletion of the ONCOR PWS/AS region A and B. In the other two cases, one of which involved an inversion with one breakpoint in the PWS/AS region, all of the proximal chromosome 15 long arm DNA probes used in the in situ hybridization were present on both homologs. Clinical follow-up was not available on these samples, as in all cases the parents chose to terminate the pregnancies. These cases demonstrate the ability to prenatally diagnose chromosome 15 abnormalities associated with PWS/AS. In addition, they highlight the need for a better understanding of this region for accurate prenatal diagnosis.

Adult↗
PubMed1995

Improving the selection of children for health assessment at secondary transfer age: completing the audit cycle.

Whilst there have been many reported assessments of selective medicals at 5+ school entry, there is a dearth of publications on the value of selected medical review at secondary transfer age. It was decided to evaluate this within the South Downs Health Trust. The team of child health doctors was asked to record data about children selected for medical review at secondary transfer age in 1992. Differences in practice were discussed, protocols were introduced and the exercise repeated. Overall the second year showed no evident change with 9.5% of children selected from 2729 in 1992 and 9.6% selected from 2473 in 1993. However, analysis of individual schools showed significant changes which illustrated the improvements achieved and the areas of weakness remaining to be addressed.

Adolescent↗
PubMed1995

The heart in sickle cell anemia. The Cooperative Study of Sickle Cell Disease (CSSCD).

The objective of this study was to obtain representative echocardiographic measurements of cardiac size and function in stable patients with sickle cell disease. This prospective, multicenter study utilized central reading of echocardiograms by an investigator blinded to other patient data. Stable outpatients from a balance of inner city and rural settings with SS phenotype and a broad age range were selected, because conflicting results from earlier studies were believed to be due to these patient selection criteria. Right and left ventricular dimensions and wall thickness, left atrial and aortic root dimensions, and systolic time intervals were measured. Body surface area indexed chamber dimensions and septal thickness were significantly increased from normal. Except for the right ventricle, chamber dimensions and wall thickness were inversely correlated with hemoglobin. The relationship between left ventricular dimension and hemoglobin was significantly dependent on age. Systolic time interval ratios were normal though left ventricular ejection time was prolonged. Shortening fraction was normal but velocity of circumferential fiber shortening was abnormally low. Stable patients with sickle cell disease have dilated chambers, septal hypertrophy, and normal contractility. Though left ventricular dilatation was inversely related to hemoglobin, age (duration of illness) was an important factor in that relationship. No specific cardiomyopathy was associated with sickle cell anemia.

Adolescent↗
PubMed1993

Improving decision making at school entry medicals--completing the audit cycle.

An audit of decision making at the entry medical was carried out to ascertain how doctors responded to childrens' physical, developmental and psychosocial adversity. Using specifically designed recording protocols, eleven doctors recorded their activity at 922 entry medicals over one term. The results were discussed, protocols of decision making were prepared and ten doctors re-ran the exercise assessing a further 783 over one term; one year later. The proportions discussed with headteachers, referred to agencies and selected for review varied in both data sets, and certain trends emerged. More experienced doctors were more likely to discuss vulnerabilities and did so for 18 to 25% of entrants in addition to the 20-30% referred or selected for review. The introduction of guidelines increased the overall proportion of children discussed with teachers and reduced, in part, the proportion scheduled for review. This study informs the debate about selective entry medicals. The findings will be of interest to commissioners of health care who have the responsibility for contracting for school entry assessments.

Child↗
PubMed1992

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.

Prader-Willi syndrome (PWS) is associated with paternally derived chromosomal deletions in region 15q11-13 or with maternal disomy for chromosome 15. Therefore, loss of the expressed paternal alleles of maternally imprinted genes must be responsible for the PWS phenotype. We have mapped the gene encoding the small nuclear RNA associated polypeptide SmN (SNRPN) to human chromosome 15q12 and a processed pseudogene SNRPNP1 to chromosome region 6pter-p21. Furthermore, SNRPN was mapped to the minimal deletion interval that is critical for PWS. The fact that the mouse Snrpn gene is maternally imprinted in brain suggests that loss of the paternally derived SNRPN allele may be involved in the PWS phenotype.

Autoantigens↗
PubMed1989

Containing mental health treatment costs through program design: a Massachusetts study.

A single site pre-post study of seriously mentally ill patients treated in a public mental health system shows that annual treatment costs can be substantially reduced with the use of day hospital treatment. Two cohorts of psychiatric patients--282 consecutive admissions to a traditional public inpatient unit in 1980, and 340 consecutive admissions to a combination of inpatient and day hospital care in 1984--were followed 12 months after admission. The substitution of the day hospital is made possible because the facility provided a dormitory residence for those who could not go home at night. Cost savings per hospital episode are about 31 per cent when the additional costs of day hospital and residence are considered. Cost shifting from inpatient to residential sites is noted, but overall mean annual costs, when all other treatment (including additional admissions), residential and family costs were included, are reduced. Readmission rates did not rise. The generalizability of the findings is limited to public mental health centers and state hospitals.

Adult↗