Penny wise, pound foolish: an assessment of Canadian Hemophilia/inherited bleeding disorder comprehensive care program services and resources.

INTRODUCTION: A network of 25 haemophilia/inherited bleeding disorder comprehensive care centres was established in Canada in the 1970s and 1980s. In 2007, standards of care, focused on the structural and resource requirements necessary to effectively provide optimal care, were adopted. AIM: Assess how human and physical resources affect centres' capacity to attain standards of care. METHODS: The Canadian Hemophilia Society (CHS), with the support of the Association of Hemophilia Clinic Directors of Canada (AHCDC), undertook the assessment. Health care providers were interviewed in person by lay CHS volunteers and staff. A comprehensive patient satisfaction survey was mailed to a representative cross-section of patients/caregivers. RESULTS: The CHS observed that, despite competent and dedicated staff, many of the programmes are experiencing serious resource deficiencies. Twenty-three of the 25 programmes lack resources in one or more of the following disciplines: haematology, nursing, physiotherapy, social work and clerical/data entry. In nine of the 25 programmes, no resources are allocated to certain core disciplines, notably physiotherapy and social work. Key standards of care, including regular health assessments and close monitoring of home infusion with factor concentrates, are not always respected. Nevertheless, a high level of satisfaction was observed among patients and their caregivers. The study also discovered that clotting factor concentrates constitute 90-95% of the total cost of care while all other aspects of care delivery represent only 5-10%. CONCLUSIONS: Under-funding of programmes and suboptimal monitoring of valuable clotting factor concentrate utilization and reporting are both 'penny-wise' and 'pound-foolish'. A formal accreditation process is needed.

Improving the effectiveness of communication in hospitals for people with communication difficulties: results of an online Phase II survey.

BACKGROUND: In a recent paper a working group set up by the Lay Advisory Committee of the Royal College of Physicians of Edinburgh (RCPE) had looked into the problems of patients with severe communication difficulties in hospital (J R Coll Physicians Edinb 2017; 47: 211-3). The present online survey expands on this with the objective of garnering the views of physicians on this matter. METHOD: An invitation aimed at physicians to complete an online survey was made through the recently published paper. The survey was open between September and December 2017. RESULTS: There were 83 completed surveys. A total of 69 of the returns were UK based, with the remainder from Asia, Australia, Africa and non-UK Europe and one unidentified location. The majority (44) were consultants, the remainder included those in core medical training, general practice and psychology. A wide range of medical departments were represented in the returns, with the largest returns coming from care of the elderly and acute medical departments. Four key themes were highlighted by responders: time, training, resources and environment. CONCLUSION: Based on these results, the working group have embarked upon the next phase of the project with three main tasks: firstly, to work with the RCPE to disseminate the survey findings to a wider audience; secondly, to collate the detailed suggestions for improvement to be used alongside the survey findings and any subsequent documentation or advice; thirdly, to formulate with the RCPE a strategy to promote good practice in hospitals related to the experiences of patients with severe communication difficulties.

Oxytocin and autistic disorder: alterations in peptide forms.

BACKGROUND: Oxytocin (OT) is synthesized as a prohormone that is sequentially processed to peptides. These peptides are the bioactive amidated form (OT) and the C-terminal extended peptides, OT-Gly, OT-Gly-Lys and OT-Gly-Lys-Arg, which are designated together as OT-X. As an extension of our previous study finding decreased plasma OT in autism, studies were conducted to determine whether there were changes in OT peptide forms in autistic children. METHODS: Twenty eight male subjects (97 +/- 20 months; range, 70-139 months), diagnosed with DSM-IV autistic disorder through observation and semi-structured interview, were compared with 31 age-matched nonpsychiatric control subjects (106 +/- 22 months; range, 74-140 months). Using OT antisera with different specificity for the peptide forms, we measured plasma OT and OT-X in each group. RESULTS: T tests showed that there was a decrease in plasma OT (t = 4.4, p <.0001), an increase in OT-X (t = 2.3, p <.03) and an increase in the ratio of OT-X/OT (t = 4.5, p <.0001) in the autistic sample, compared with control subjects. CONCLUSIONS: The results suggest that children with autistic disorder show alterations in the endocrine OT system. Deficits in OT peptide processing in children with autism may be important in the development of this syndrome.

Plasma oxytocin levels in autistic children.

BACKGROUND: Social impairments are central to the syndrome of autism. The neuropeptide oxytocin (OT) has been implicated in the regulation of social behavior in animals but has not yet been examined in autistic subjects. METHODS: To determine whether autistic children have abnormalities in OT, midday plasma samples from 29 autistic and 30 age-matched normal children, all prepubertal, were analyzed by radioimmunoassay for levels of OT. RESULTS: Despite individual variability and overlapping group distributions, the autistic group had significantly lower plasma OT levels than the normal group. OT increased with age in the normal but not the autistic children. Elevated OT was associated with higher scores on social and developmental measures for the normal children, but was associated with lower scores for the autistic children. These relationships were strongest in a subset of autistic children identified as aloof. CONCLUSIONS: Although making inferences to central OT functioning from peripheral measurement is difficult, the data suggest that OT abnormalities may exist in autism, and that more direct investigation of central nervous system OT function is warranted.

Neurofunctional mechanisms in autism.

Behavioral impairments in autism are theorized to result from abnormal neuronal organization in brain development generating 4 systemically related neurofunctional impairments: (a) canalesthesia, wherein abnormal hippocampal system function "canalizes" sensory records, disrupting integration of information; (b) impaired assignment of the affective significance of stimuli, wherein abnormal amygdaloid system function disrupts affect association; (c) asociality, wherein impaired oxytocin system function flattens social bonding and affiliativeness; and (d) extended selective attention, wherein abnormal organization of temporal and parietal polysensory regions yields aberrant overprocessing of primary representations. This model proposes that complex human behaviors may be guided by multiple overlapping neural mechanisms.

Fragile X and autism: a multicenter survey.

We screened 183 autistic males for the fra(X) and found 24 (13.1%) to be positive. Adding the subjects of this study to those of 11 other surveys, of which 6 were positive and 5 were negative, a total of 614 autistic males have been screened. Overall 47 (7.7%) were positive. Based on this estimate and the prevalence of autism and fra(X), we estimate that 12.3% of fra(X) males are autistic. We have found that 17.3% of our fra(X) males were autistic and overall a 21.2% frequency has been reported, these higher figures are most likely due to biases in age and ascertainment. With an overall 7.7% frequency of fra(X) among autistic males and an estimated 12.3% of autism among fra(X) males, we conclude there is likely to be a significant association of fra(X) with autism. Because fra(X) appears to be the single most common cause of the condition, chromosomal testing is recommended for any autistic person with undiagnosed etiology.

Subgroups of children with autism by cluster analysis: a longitudinal examination.

OBJECTIVES: A hierarchical cluster analysis was conducted using a sample of 138 school-age children with autism. The objective was to examine (1) the characteristics of resulting subgroups, (2) the relationship of these subgroups to subgroups of the same children determined at preschool age, and (3) preschool variables that best predicted school-age functioning. METHOD: Ninety-five cases were analyzed. RESULTS: Findings support the presence of 2 subgroups marked by different levels of social, language, and nonverbal ability, with the higher group showing essentially normal cognitive and behavioral scores. The relationship of high- and low-functioning subgroup membership to levels of functioning at preschool age was highly significant. CONCLUSIONS: School-age functioning was strongly predicted by preschool cognitive functioning but was not strongly predicted by preschool social abnormality or severity of autistic symptoms. The differential outcome of the 2 groups shows that high IQ is necessary but not sufficient for optimal outcome in the presence of severe language impairment.

Affect comprehension in children with pervasive developmental disorders.

Affect comprehension was studied in children with pervasive developmental disorders (PDD) and normal children matched for mental age. Three matching tasks were used: matching objects (a nonsocial control task), matching faces, and matching affects. The three tasks were developed to be of equal difficulty for normal children. Children were also tested for comprehension and expression of affect terms. The PDD children were impaired on affect matching relative to the normal controls. The PDD children were impaired on face and affect matching relative to their own performance on object matching, whereas the normal children were not. Within the PDD sample, object matching was correlated with mental age measures but not with measures of social behavior and play, but face and affect matching were significantly correlated with mental age as well as social behavior and play. Individual PDD children who showed relative deficits on face or affect matching tended to be more socially impaired than PDD children whose face and affect matching was consonant with their mental age. Results are discussed in terms of possible etiologies of the social deficit in PDD children, and the importance of subtypes within this population.

Pervasive developmental disorders: from DSM-III to DSM-III-R.

The present paper provides a brief history of the development of the DSM-III-R (American Psychiatric Association [APA], 1987) section on Pervasive Developmental Disorders. It describes the process by which the contents of the text and criteria for Autistic Disorder and Pervasive Developmental Disorder Not Otherwise Specified were decided and gives the reasons for the changes from DSM-III (APA, 1980) categories and criteria. The paper concludes with a short discussion of critical diagnostic issues.

Cognitive subtypes in developmentally disabled children: a pilot study.

Differential diagnoses within the pervasive developmental disorders have insufficient reliability, validity, and descriptive homogeneity within groups to be used as distinct categories for research purposes. This study reports the results of cognitive subtyping of 54 developmentally disabled children. Fifty-one were successfully categorized in a small number of groups, characterized by different strengths and weaknesses on verbal, performance, memory, and quantitative tests. About half of the children had the relatively good visuospatial performance expected on the basis of previous literature on autistic children; these children were not behaviorally more autistic than the others. Measures of internal validity are reported, as well as validation by cognitive and behavioral variables. These results tentatively suggest that such psychiatric manifestations as autistic aloofness and maintenance of sameness may be relatively independent of cognitive skill patterns.

Sustained attention in children with autism.

Although many children with early infantile autism cannot maintain attention to externally imposed tasks, they may continue a repetitive behavior of their own choosing for long periods of time. This study examined the performance of autistic and mental age matched normal children on a Continuous Performance Test of sustained attention. Results suggest that autistic children's difficulties in sustaining attention on imposed tasks may be attributable partly to a developmental delay and partly to the motivational contingencies of task rather than to a primary impairment in the ability to sustain attention.

Social initiations by autistic children to adults and other children.

Social initiations made by autistic and verbal-matched retarded children were recorded in two naturalistic situations. Frequencies of initiation to adults did not differ between groups, but the retarded children initiated much more frequently to peers. Most interactions for both groups were positive, but the autistic children engaged in more ritualized, and the retarded children more playful, initiations. The autistic children monitored the social environment more when forced into proximity with peers, whereas the retarded children initiated more in the unstructured situation. Autistic initiation to peers was unrelated to severity of autism, but was related to cognitive skills, including vocabulary and comprehension of affect, whereas retarded children's initiations were unrelated to cognitive level. Results are discussed in terms of the differences between adults and children as social stimuli, prerequisite skills for initiation to peers, and the relationship between social cognition and social behavior. It is suggested that autistic and retarded children differ in the quantity of their initiations to peers, and the quality of their initiations to adults, and that initiations to peers may be a particularly useful index of social development in autistic children. Results confirm the need of autistic children for highly structured social environments, and suggest an important role for the remediation of specific cognitive skills such as comprehension of others' affects.

Handedness and cognitive functions in pervasive developmental disorders.

This paper is concerned with what abnormal handedness in Pervasive Developmental Disorders (PDD) reveals about the presence, lateralization, and severity of cerebral dysfunction in this population. From previous work, it was predicted that left-handedness would be elevated in the sample and that mixed-handedness subjects should be more impaired than those with established hand dominance. A battery of cognitive and motor tests were administered to a group of PDD children with autistic symptoms, and performance was compared for the left-handed, right-handed, and mixed-preference children. It was found that left-handers tended to do better than right-handers on all cognitive measures, while the mixed-preference children tended to be the lowest on all cognitive measures. No differences were found on motor measures. An extension of the Satz (1972) model, assuming early brain damage, was developed to explain the superiority of the left-handed children; an alternative explanation assuming anomalous lateralization patterns in the natural left-handers was also suggested.

The responses of autistic children to the distress of others.

The behavior of preschool children from five groups (developmental language disordered, high-functioning autistic, low-functioning autistic, mentally retarded, and normally developing) were coded in three situations: presentation of a nonsocial orienting stimulus (an unfamiliar noise) and two social situations involving simulated distress on the part of an adult with whom they were playing. Cognitive level was correlated with level of responsiveness to stimuli only for the two retarded groups (mentally retarded and low-functioning autistic). Girls showed more prosocial behavior than boys in both social situations, independent of diagnosis. The language-disordered children showed only mild and subtle social deficits. The low-functioning autistic children showed pronounced deficits in responding in all situations. The mentally retarded and high-functioning autistic children showed good awareness of all situations, but were moderately impaired in their ability to respond prosocially; they rarely initiated prosocial behavior, but did respond to specific prompts. The behavioral feature that marked both autistic groups, in contrast to all other groups, was a lack of social referencing; they did not tend to look toward an adult in the presence of an ambiguous and unfamiliar stimulus. Results are discussed in terms of variability between and among high- and low-functioning autistic children, and implications for the core deficits in autism.

Delay versus deviance in autistic social behavior.

The pattern of acquisition of social, communication, and daily living skills was examined for autistic children, compared to retarded and normal controls, by quantifying intradomain scatter on the Vineland Adaptive Behavior Scales. Autistic children were matched to normal children and mentally retarded children on Vineland raw scores; group differences in scatter were examined for each domain of adaptive behavior. Autistic children had significantly more scatter on Communication and Socialization than both control groups. Item analyses showed that the autistic children had particular weaknesses on items reflecting attention to and pragmatic use of language, as well as play and reciprocal social interaction; the autistic children had particular strengths on items reflecting written language and rote language skills, and rule-governed social behavior. The number of items showing consistent group differences, however, was small, suggesting that although autistic development appears sequentially deviant and not merely delayed, individual autistic children derive their scatter from different items, and are a developmentally heterogeneous group.

Diagnosis and classification in autism.

This study compared four systems for the diagnosis of autism (DSM-III, DSM-III-R, DSM-IV, and ICD-10) with two empirically derived taxa of autism, and with three social subgroups of autism (Aloof, Passive, and Active-but-Odd) in 194 preschool children with salient social impairment. There were significant behavior and IQ differences between autistic and other-PDD groups for all four diagnostic systems, and a significant association was found (a) for Taxon B, diagnoses of autism, and the Aloof subgroup, and (b) for Taxon A, other-PDD, and the Active-but-Odd subgroup. Findings offer support for two major overlapping continua within idiopathic Pervasive Developmental Disorder.

Predictors and correlates of adaptive functioning in children with developmental disorders.

Autism is a developmental disorder marked by impairments in socialization, communication, and perseverative behavior and is associated with cognitive impairment and deficits in adaptive functioning. Research has consistently demonstrated that children with autism have deficits in adaptive functioning more severe than their cognitive deficits. This study investigates the correlates and predictors of adaptive functioning as measured by the Vineland Adaptive Behavior Scales in high- and low-functioning children with autism and their age and nonverbal IQ matched controls. Thirty-five 9-year-old children with high-functioning autism (HAD) were compared with 31 age-matched children with developmental language disorder (DLD), and 40 9-year-old children with low-functioning autism (LAD) were compared with 17 age-matched children with low IQ on adaptive functioning, IQ, autistic symptomology, and tests of language and verbal memory. Results indicate that both groups with autism were significantly impaired compared to their matched controls on Socialization and Daily Living, but not Communication and that these impairments were more pronounced in the HAD group than in the LAD group. Adaptive behavior was strongly correlated with autistic symptomology only in the HAD group. Regression analyses indicated that IQ was strongly predictive of adaptive behavior in both low-functioning groups, but tests of language and verbal memory predicted adaptive behavior in the higher functioning groups. Results suggest that IQ may act as a limiting factor for lower functioning children but higher functioning children are impaired by specific deficits, including autistic symptomology and impaired language and verbal memory.

Treatment of psoriatic arthritis with sulphasalazine: a one year open study.

Sulphasalazine (SASP) has recently become established as an effective treatment for active rheumatoid arthritis (RA), but has not previously been used in psoriatic arthritis in which remission-inducing drugs have proved disappointing. In this one year open study, 34 patients with active psoriatic arthritis were treated with sulphasalazine. An overall favourable clinical response was observed in 23 patients (67%). Nine patients (26%) achieved a very good therapeutic response and these either had arthritis associated with spondylitis or the symmetrical type of joint disease. Evaluation at 3, 6 and 12 months showed a significant improvement in inflammatory indices including a reduction in the C-reactive protein level and ESR. The drug was well-tolerated and side-effects were mild. Eight patients (23.5%) stopped the drug because of reactions and one patient with a rash was successfully desensitised. Fifty-three percent continued the drug into the second year. No apparent exacerbation of the psoriasis was observed. These results suggest that sulphasalazine is a safe and potentially effective drug in the treatment of psoriatic arthritis. A double-blind placebo-controlled trial has been set up to determine its true efficacy.

Rapid microwave-stimulated fixation of fine-needle aspiration biopsies for transmission electron microscopy.

A new technique is described in which fine-needle aspiration biopsies are processed for transmission electron microscopy within 2 hr. This rapid processing method includes exposure of the biopsy in a glutaraldehyde-formaldehyde mixture to microwaves for 25 sec in a domestic oven. The specimen is then routinely stained, processed through graded ethanol, and embedded in epoxy resin to produce excellent preservation of fine structural features.