Service utilization in a sample of preschool children with autism spectrum disorder: A Canadian snapshot.

OBJECTIVE: To describe services received by preschool children diagnosed with autism spectrum disorder (ASD) during the five-year period following their diagnosis. METHOD: An inception cohort of preschoolers diagnosed with ASD from Halifax (Nova Scotia), Montreal (Quebec), Hamilton (Ontario), Edmonton (Alberta) and Vancouver (British Columbia) were invited to participate. Parents/caregivers (n=414) described the services provided to their children at four time points: baseline (T1; within four months of diagnosis; mean age three years); six months later (T2); 12 months later (T3); and at school entry (T4). Data were first coded into 11 service types and subsequently combined into four broader categories (no services, behavioural, developmental and general) for analysis. RESULTS: More than 80% of children at T1, and almost 95% at T4 received some type of service, with a significant number receiving >1 type of service at each assessment point. At T1, the most common service was developmental (eg, speech-language therapy). Subsequently, the most common services were a combination of behavioural and developmental (eg, intensive therapy based on applied behaviour analysis and speech-language therapy). Service provision varied across provinces and over time. DISCUSSION: Although most preschool children with ASD residing in urban centres were able to access specialized services shortly after diagnosis, marked variation in services across provinces remains a concern.

OBJECTIF: Décrire les services qu'ont reçus des enfants d'âge préscolaire ayant un trouble du spectre autistique (TSA) pendant la période de cinq ans suivant leur diagnostic. MÉTHODOLOGIE: Une cohorte initiale d'enfants d'âge préscolaire ayant un TSA diagnostiqué et qui provenaient de Halifax (Nouvelle-Écosse), de Montréal (Québec), de Hamilton (Ontario), d'Edmonton (Alberta) ou de Vancouver (Colombie-Britannique) a été invitée à participer à l'étude. Les parents et les tuteurs (n=414) ont décrit les services fournis à leur enfant à quatre moments : au début (T1; dans les quatre mois suivant le diagnostic, âge moyen de trois ans); six mois plus tard (T2); 12 mois plus tard (T3) et à l'entrée à l'école (T4). Les chercheurs ont d'abord codé les données en 11 types de services, pour ensuite les regrouper en quatre catégories plus vastes (absence de services, comportementaux, développementaux et généraux) en vue de leur analyse. RÉSULTATS: Plus de 80 % des enfants ont reçu certains services à T1, et près de 95 % à T4, et un nombre significatif a reçu plus d'un type de services à chaque évaluation. À T1, le service le plus courant était de type développemental (p. ex., orthophonie). Par la suite, les services les plus courants étaient un mélange de services comportementaux et développementaux (p. ex., thérapie intensive selon l'analyse de comportement appliquée et orthophonie). La prestation des services variait selon les provinces et au fil du temps. EXPOSÉ: Même si la plupart des enfants d'âge préscolaire ayant un TSA qui habitaient dans un centre urbain avaient accès à des services spécialisés peu après le diagnostic, les variations marquées des services entre les provinces demeurent préoccupantes.

Vaginal vault cytology tests: analysis of a decade of data from a UK tertiary centre.

OBJECTIVES: To examine temporal trends in the use of vault cytology tests in primary and secondary care and the demographics of those women tested. METHODS: Retrospective analysis of routinely collected data concerning women who had a vault cytology test processed during a 10-year period (1 April 1995 to 31 March 2005) at Birmingham Women's NHS Foundation Trust. RESULTS: A total of 8457 vault cytology tests from 3164 women (range 1-17 tests, median = 2) were processed, representing approximately 2% of the cervical cytology workload of the Department of Cytopathology at Birmingham Women's Hospital. There was a significant reduction in annual numbers processed (Pearson correlation -0.958, P < 0.001). Significant abnormalities (mild dyskaryosis or worse) were detected in 4.5%, with malignancy being detected in <0.1%. The unsatisfactory cytology test rate was 10.7% overall. There was a reduction in the numbers of vault cytology tests coming from the community, hospital outpatient clinics and operating theatres over time (χ(2) for linear trend = 139.53, 9 d.f., P < 0.0001). Tests originating from community settings had the lowest disease detection rates: no malignancies and only two severe abnormalities were detected from almost 4000 primary care samples; abnormal results represented 2.8% (n = 113), of which the majority (n = 73) were borderline results. All cancers (n = 8) were detected in samples taken in gynaecology and colposcopy clinics. CONCLUSIONS: Vault cytology test usage appears to be reducing, particularly from outpatient clinics and primary care. Community detection rates are very low. Further research is required to establish the true costs and benefits of vaginal vault cytology.

Healing journeys: Indigenous Men's reflections on resources and barriers to mental wellness.

Indigenous peoples in Canada and other settler colonial nations experience barriers to healing in the health care system and their communities. Drawing on four sequential sharing circles and indepth interviews with 11 Indigenous men, this article shares the stories of Indigenous men and their healing journeys with the aim of improving culturally safe support in the community. In sharing their stories, these men identified coping with colonialism, as well as trauma and grief, as barriers in their healing journey. They also described finding strength in cultural role models, fathering, as well as ceremony and connecting to the land. We discuss the implications of these findings for service provision and decolonizing community health services.

Examining Trajectories of Daily Living Skills over the Preschool Years for Children with Autism Spectrum Disorder.

Preschool children with autism spectrum disorder (ASD) experience slower development of daily living skills (DLS) that are essential for independent functioning compared to typically developing children. Few studies have examined the trajectories of DLS in preschoolers with ASD and the existing literature has reported conflicting results. This study examined DLS trajectories and potential covariates for preschoolers with ASD from a multi-site longitudinal study following children from diagnosis to the end of grade 1. Multi-level modeling was conducted with DLS domain scores from the Vineland Adaptive Behavior Scales-2. The results demonstrated a positive trajectory of increasing scores over time, associations of age of diagnosis, developmental level, stereotypy, and language skills with the mean score at T4 or age 6 years, whereas rate of change was only associated with ASD symptom severity, such that an improvement in DLS trajectory was associated with lower and improving ASD symptom severity.

The revised BSCC terminology for abnormal cervical cytology.

The BSCC terminology was originally published in 1986 and although highly successful, requires revision. Through a process of professional consensus and literature review this has been undertaken by the BSCC. The revision takes account of recent developments and improvements in understanding of morphology and disease process and is compatible with other terminologies in use elsewhere, whilst still maintaining a focus on practice in the UK cervical screening programmes.

Correlates of elevated blood pressure in healthy children: a systematic review.

The prevalence of hypertension in children is increasing globally. Addressing this will require a robust understanding of associated risk factors. To this end, we conducted a systematic review to identify correlates of elevated blood pressure (BP) in children. Literature searches were conducted using pre-defined search terms from three academic databases. The abstract and full text of identified studies were screened for eligibility by two independent reviewers. A total of 100 studies were included in this systematic review. An assessment tool was first used to assess study quality; a narrative synthesis was then performed. We found a broad range of physiological, social and behavioural factors associated with elevated BP in children. The most common correlate observed was adiposity, suggesting that childhood obesity may be implicated in the increased prevalence of hypertension observed in children. However, the broad range of other factors identified underscores the multi-factorial aetiology of hypertension. Data from a broad range of studies showed that the correlates of hypertension in children are multi-factorial. Therefore, approaches aimed at preventing hypertension must in turn be multi-factorial to ensure that the burden of hypertension in childhood is addressed.

Inhibition of lymphoproliferation by hyperlipoproteinemic plasma.

Plasma for patients with primary type IV or V hyperlipoproteinemia inhibited [3H]thymidine incorporation by cultured mononuclear leukocytes. This previously unreported abnormality affected mononuclear leukocytes from patients with type IV or V hyperlipoproteinemia and from normal subjects. Patient cells incorporated [3H]thymidine normally when washed and incubated in medium containing normal plasma. Both spontaneous incorporation and stimulated incorporation in response to various mitogens and antigens were inhibited. The inhibitory effect was identified with the chylomicron and very low density lipoprotein fractions isolated from plasma and was concentration-dependent. Lectin used to stimulate cultured cells and [3H]thymidine used to measure responses were not bound to the lipoproteins in appreciable amounts. [3H]-Thymidine incorporation correlated well with morphologic evidence of lymphoproliferation. The mechanism of the inhibitory effect of type IV or V hyperlipoproteinemic plasma upon the response tested was not identified by may be related to interaction between lipoproteins and the cell membranes. We suggest that these lipoproteins may also interfere with the function of other cells.

Meiotic exchange within and between chromosomes requires a common Rec function in Saccharomyces cerevisiae.

We used haploid yeast cells that express both the MATa and MAT alpha mating-type alleles and contain the spo13-1 mutation to characterize meiotic recombination within single, unpaired chromosomes in Rec+ and Rec- Saccharomyces cerevisiae. In Rec+ haploids, as in diploids, intrachromosomal recombination in the ribosomal DNA was detected in 2 to 6% of meiotic divisions, and most events were unequal reciprocal sister chromatid exchange (SCE). By contrast, intrachromosomal recombination between duplicated copies of the his4 locus occurred in approximately 30% of haploid meiotic divisions, a frequency much higher than that reported in diploids; only about one-half of the events were unequal reciprocal SCE. The spo11-1 mutation, which virtually eliminates meiotic exchange between homologs in diploid meiosis, reduced the frequency of intrachromosomal recombination in both the ribosomal DNA and the his4 duplication during meiosis by 10- to greater than 50-fold. This Rec- mutation affected all forms of recombination within chromosomes: unequal reciprocal SCE, reciprocal intrachromatid exchange, and gene conversion. Intrachromosomal recombination in spo11-1 haploids was restored by transformation with a plasmid containing the wild-type SPO11 gene. Mitotic intrachromosomal recombination frequencies were unaffected by spo11-1. This is the first demonstration of a gene product required for recombination between homologs as well as recombination within chromosomes during meiosis.

FARE, a new family of foldback transposons in Arabidopsis.

A new family of transposons, FARE, has been identified in Arabidopsis. The structure of these elements is typical of foldback transposons, a distinct subset of mobile DNA elements found in both plants and animals. The ends of FARE elements are long, conserved inverted repeat sequences typically 550 bp in length. These inverted repeats are modular in organization and are predicted to confer extensive secondary structure to the elements. FARE elements are present in high copy number, are heterogeneous in size, and can be divided into two subgroups. FARE1's average 1.1 kb in length and are composed entirely of the long inverted repeats. FARE2's are larger, up to 16.7 kb in length, and contain a large internal region in addition to the inverted repeat ends. The internal region is predicted to encode three proteins, one of which bears homology to a known transposase. FARE1.1 was isolated as an insertion polymorphism between the ecotypes Columbia and Nossen. This, coupled with the presence of 9-bp target-site duplications, strongly suggests that FARE elements have transposed recently. The termini of FARE elements and other foldback transposons are imperfect palindromic sequences, a unique organization that further distinguishes these elements from other mobile DNAs.

The role of the SPO11 gene in meiotic recombination in yeast.

Several complementary experimental approaches were used to demonstrate that the SPO11 gene is specifically required for meiotic recombination. First, sporulating cultures of spo11-1 mutant diploids were examined for landmark biochemical, cytological and genetic events of meiosis and ascosporogenesis. Cells entered sporulation with high efficiency and showed a near-doubling of DNA content. Synaptonemal complexes, hallmarks of intimate homologous pairing, and polycomplex structures appeared during meiotic prophase. Although spontaneous mitotic intra- and intergenic recombination occurred at normal levels, no meiotic recombination was observed. Whereas greater than 50% of cells completed both meiotic divisions, packaging of the four meiotic products into mature ascospores took place in only a small subset of asci. Haploidization occurred in less than 1% of viable colony-forming units. Second, the Rec- meiotic defect conferred by spo11-1 was confirmed by dyad analysis of spores derived from spo13-1 single-division meiosis in which recombination is not a requirement for viable ascospore production. Diploids homozygous for the spo13-1 mutation undergo meiotic levels of exchange followed by a single predominantly equational division and form asci containing two near-diploid spores. With the introduction of the spo11-1 mutation, high spore viability was retained, whereas intergenic recombination was reduced by more than 100-fold.

Acquired Pelger-Huët nuclear anomaly with tuberculosis.

Karel Pelger described an abnormality of granulocyte nuclear segmentation in the context of advanced tuberculosis, but G. Huët questioned this association. It is now recognized that the Pelger-Huët nuclear anomaly (PHNA) can be either hereditary or acquired with systemic diseases, commonly hematologic dysplasias. An association with tuberculosis has never been well verified. The man described in our study had cachexia, high fevers, severe hypoproliferative anemia, and acquired PHNA. At autopsy, an overwhelming tuberculosis was discovered in the absence of any other underlying disease. Acquired PHNA may serve as a diagnostic and prognostic indicator in tuberculosis.

Chronic myelogenous leukemia. Association with 45 XO Philadelphia chromosome karyotype and prolonged survival.

A 42-year-old man with chronic myelogenous leukemia for ten years was found to have a 45 XO Philadelphia chromosome karyotype in myeloid cells with normal 46 XY pattern in peripheral blood lymphocytes. This chromosome pattern has been postulated to be associated with delay in onset of blastic transformation. The prolonged survival of this patient, with only minimal initial chemotherapy and lack of symptoms for ten years, lends support to the concept that the missing Y chromosome may be associated with a favorable prognosis in Philadelphia chromosome-positive men with chronic myelogenous leukemia.

Smoldering acute granulocytic leukemia. Observations on its natural history and morphologic characteristics.

In this prospective study, 24 patients with smoldering acute granulocytic leukemia received no specific treatment. Median survival duration from diagnosis was 9.29 months. Fourteen patients died of infection, four died of hemorrhage, two (8%) progressed to aggressive acute leukemia, and three remain alive at 36, 32, and 10 months. No survival predictions could be made from the severity of leukopenia, thrombocytopenia, or both. Neither sepsis nor hemorrhage, as causes of death, segregated into short- or long-term survivors (9.0 and 8.75 months' median survival, respectively). Thirteen patients (59%) had French, American, and British M2 subclassification of acute granulocytic leukemia. The following marrow findings distinguished this entity from preleukemia and other dysplastic states: clustering of stem cells; percentage usually between 20% and 40%; and Auer rods. The use of aggressive chemotherapy v only supportive measures in this condition remains unsolved.

Polycythemia rubra vera and artifactual hypoglycemia.

A patient with polycythemia rubra vera had had a leukocyte count between 55,000 and 86,000/cu mm and had had serum glucose levels as low as 8 mg/dL. Despite these low serum glucose values, the patient was asymptomatic, and a more careful investigation disclosed that the hypoglycemia was artifactual. This phenomenon, reported in other leukemic states, to our knowledge, has not been previously described in patients with polycythemia rubra vera. Our case broadens the spectrum of the causes of artifactual low serum glucose concentration due to excessive glucose consumption by the WBCs. This phenomenon is related to extreme leukocytosis, regardless of the underlying disease. Unnecessary workup for hypoglycemia can be avoided if its artifactual nature is suspected in any patient with a reported low serum glucose level and high WBC count.

Thrombotic thrombocytopenic purpura complicating Legionnaires' disease.

A case of Legionella pneumophila infection complicated by thrombotic thrombocytopenic purpura (TTP) was confirmed at autopsy by the demonstration of the organism in lung tissue, and by the finding of widespread intravascular and subendothelial thrombi associated with microinfarctions in all major organs examined. In addition to the typical hematologic abnormalities of TTP, the patient was found to have a low serum C3 level and elevated levels of immune complexes as measured by the liquid phase C1q binding assay. We suggest that the L pneumophilia infection caused endothelial damage and/or platelet aggregation, perhaps as a consequence of complement activation, thus initiating the sequence of events leading to extensive microvascular thromboses.

Marginal malnutrition and reduced physical work capacity of migrant adolescent boys in Southern Brazil.

We measured the effect of marginal malnutrition on physical work capacity of adolescent children of agricultural migrant workers in Southern Brazil. Nutritional status was evaluated using 24-h dietary recall. Body size was evaluated anthropometrically. Biochemical assessments were also made. Physical work capacity (PWC170) was assessed by measuring heart rate, blood lactic acid levels, and oxygen consumption during submaximal bicycle ergometer work. The same tests were also carried out on a comparable group of local well-to-do boys of the same age in the same community who served as controls. The dietary results suggest that adolescent boys of migrant families were marginally malnourished. Their physical growth and development were retarded by at least 1 yr. They had significantly lower reserves of body fat and less muscle mass when compared with controls. Their Hb levels were normal. At the submaximal work loads measured (0, 25, 50, 75 W) the migrant children exhibited similar oxygen consumption and gross exercise efficiency as the control children, but achieved this work at a higher percentage of their maximum work capacity as shown by significantly higher heart rates for the same oxygen consumption. Higher blood lactic acid levels in the migrant children suggest that the available muscle mass was under greater stress to accomplish the same task. PWC170 was reduced one-third in the migrant children (migrant 643 +/- 162 kpm/min, control 905 +/- 345 kpm/min; p less than 0.005). These differences were largely associated with weight (migrant 20.6 +/- 5.9 kpm/min; control 18.8 +/- 4.3 kpm/kg/min; p greater than 0.1). These observations suggest that marginal as well as severe malnutrition affect physical work capacity at levels low enough to affect growth and development.

Basophils in peripheral blood and bone marrow. A retrospective review.

The records on 375 consecutive bone marrow aspirations were reviewed to establish the incidence and association of peripheral and bone marrow basophilia. Seventeen cases of peripheral basophilia were identified (4.5 percent incidence) and were associated with iron deficiency (five cases), lung carcinoma (four cases), anemia of undetermined cause (four cases), and chronic myelogenous leukemia, myelodysplasia, chronic renal failure, and acute myelogenous leukemia (one case each). There were six cases of marrow basophilia, including iron-deficiency anemia (two cases), sideroblastic anemia with myelodysplasia, mild dyspoiesis, anemia of chronic disease, and acute erythroleukemia. Marrow basophilia was significantly associated with myelodysplasia and sideroblastic anemia, but was not found in 37 patients with lymphoproliferative disorders. There were no instances of simultaneous marrow and peripheral basophilia. These data support the concept that marrow basophilia is a specific, although not sensitive, marker of disruption of the normal marrow maturation controls.

Crisis in sickle cell trait.

A 34-year-old black male with hemoglobin AS was admitted for renal failure, polydipsia, hypertension, schizophrenia, mental confusion, and visual hallucinations. Abnormal electrolytes were corrected by dialysis, but blood specimens were reported as hemolyzed with hyperkalemia. Peaked T waves on electrocardiographic analysis were followed by cardiac arrest. An autopsy revealed sickled cells in the visual cortex and other symptomatic organs, but normal erythrocytes in most of the vascular tree. These findings suggest true progressive sickle cell crisis in a hemoglobin AS patient.

Hairy cell leukemia associated with focal vascular damage.

In a patient with hairy cell leukemia, segmental vascular alterations developed in many of the larger visceral arteries. In previously reported instances of this association, the vasculitis resembled polyarteritis nodosa. In contrast, in the present case the vessels did not show the typical necroses, polymorphonuclear infiltrates, and aneurysmal changes. Instead, vascular alterations consisted of edema, fibrosis, and infiltration by tumor cells. A possible pathogenetic mechanism for these findings may be a local immunologic interaction of tumor cells and vessels, suggesting a direct relation between hairy cell leukemia and vascular damage.