ABSTRACT
A 20 item observational measure of social functioning, the Impression of Interviewee rating scale, is one of three measures devised to assess the broader autism phenotype. The sample studied included families containing at least two individuals with autism spectrum disorder; observations were undertaken by the researcher who interviewed the subject. An exploratory factor analysis suggested a single factor was most appropriate (Cronbach's α of 0.78). There was a modest but significant retest correlation of 0.42. Correlations between live ratings and blind consensus ratings of vignettes were high (0.93). Correlations with the interview measures were moderate but statistically significant. In conclusion, the observational scale provides a promising start but further work is required before general use can be recommended.
Subject(s)
Child Development Disorders, Pervasive/diagnosis , Social Adjustment , Adolescent , Adult , Aged , Child , Family , Female , Humans , Interview, Psychological , Male , Middle Aged , Phenotype , Reproducibility of Results , Social Behavior , Surveys and QuestionnairesABSTRACT
BACKGROUND: X-linked ichthyosis (XLI) (steroid sulfatase deficiency) is caused by deletions or point mutations of the steroid sulfatase (STS) gene on chromosome Xp22.32. Deletions of this region can be associated with cognitive behavioural difficulties including autism. Animal work suggests the STS gene may be involved in attentional processes. We have therefore undertaken a systematic study of autism and attention deficit hyperactivity disorder (ADHD) in boys with XLI. METHODS: Cases of XLI were recruited from families originally ascertained when pregnancies with STS deficiency were identified through a routine maternal screening programme. Boys with XLI were assessed for ADHD and autism using standardised questionnaires and interviews. Deletions of the STS gene were identified and characterised by analysis of genomic DNA and/or fluorescent in situ hybridisation. RESULTS: 25 boys with XLI were assessed for autism and ADHD. 40% fulfilled DSM-IV criteria for a diagnosis of ADHD, 80% of which were inattentive subtype. ADHD diagnoses were present in those with both deletions and presumed point mutations of STS. Additionally, five boys, from three unrelated families, fulfilled criteria for an autistic spectrum disorder or related language/communication difficulty, and all had an unusually large deletion of the STS gene with loss of the neuroligin 4 (NLGN4) gene. None of the boys with the typical deletion or presumed point mutations of STS demonstrated autistic difficulties. CONCLUSIONS: STS deficiency may be a risk factor for ADHD with predominantly inattentive symptoms. Boys with XLI and large deletions encompassing STS and NLGN4 are at increased risk of developing autism and related disorders.
Subject(s)
Attention Deficit Disorder with Hyperactivity/genetics , Autistic Disorder/genetics , Gene Deletion , Ichthyosis, X-Linked/genetics , Steryl-Sulfatase/genetics , Child , Humans , Male , United KingdomABSTRACT
In vitro 'spontaneous' platelet aggregation has been studied in whole blood. The spectrum of activity of materials known to influence platelet aggregation in platelet-rich plasma proved different in whole blood. Thus dipyridamole and one of its analogues SH1242 had a striking effect in whole blood whilst aspirin, chlorpromazine and K3920 had little or no effect. The combination of aspirin and dipyridamole as currently employed in clinical practice had no greater inhibitory effect than dipyridamole alone. The possible clinical relevance of these findings is discussed.
Subject(s)
Blood Physiological Phenomena , Platelet Aggregation , Aspirin/pharmacology , Chlorpromazine/pharmacology , Dipyridamole/pharmacology , Drug Interactions , Female , Humans , In Vitro Techniques , Male , Platelet Aggregation/drug effectsABSTRACT
Platelet aggregation can be measured in whole blood by monitoring the fall in single platelet count in an electronic platelet counter. The aggregation that occurs when whole blood is stirred in a small cuvette ("spontaneous aggregation") or upon the addition of collagen has been studied in citrated whole blood from male and female volunteers. Aspirin 40 micrograms ml/l inhibited aggregation induced by collagen in both sexes but spontaneous aggregation was only affected by aspirin in males. These results may help explain the sex difference apparent in the results of some clinical trials of aspirin as an antithrombotic agent.
Subject(s)
Aspirin/pharmacology , Platelet Aggregation/drug effects , Collagen/antagonists & inhibitors , Female , Humans , In Vitro Techniques , Male , Platelet Count , Sex FactorsABSTRACT
The effects of radiological contrast media on red cell morphology and rigidity have been studied. It has been shown that all the contrast agents studied, even when iso-osmolar with plasma, produce changes in red cell morphology, revealing the intrinsic chemotoxicity of contrast medium molecules. The changes are greatest with the most strongly protein-bound medium investigated--meglumine ioglycamide. The effects on red cell rigidity, on the other hand, appear purely a function of osmolality, being entirely reproducible with hyperosmolar solutions of saline. At concentrations iso-osmolar with plasma no effect on deformability is observed. Since the increased rigidity of red cells induced by contrast medium adversely affects blood flow, the use of the new low-osmolality contrast media is particularly recommended in pulmonary angiography and renal arteriography.
