Enhancing the Validity of a Quality of Life Measure for Autistic People

Accurate measurement of quality of life (QoL) is important for evaluation of autism services and trials of interventions. We undertook psychometric validation of the World Health Organisation measure—WHOQoL-BREF, examined construct validity of the WHO Disabilities module and developed nine additional autism-specific items (ASQoL) from extensive consultation with the autism community. The sample of 309 autistic people was recruited from the Adult Autism Spectrum Cohort-UK. The WHOQoL-BREF had good psychometric properties, including criterion, convergent, divergent and discriminant validity. The WHO Disabilities module showed adequate construct validity and reliability. The ASQoL items form a unitary factor of QoL, with one global item. Future studies can use the WHO measures alongside the ASQoL items to measure QoL of autistic people.     

Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder

Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and repetitive behaviours were lower in females than males, alongside comparable levels of social interaction and communication difficulties in females and males. Current ADI-R and ADOS scores showed no sex differences for ASD severity. There were lower socio-communicative symptoms in older compared to younger individuals. This large European ASD sample adds to the literature on sex and age variations of ASD symptomatology.     

Catastrophic drug errors involving tranexamic acid administered during spinal anaesthesia

We have reviewed accidental spinal administration of tranexamic acid. We performed a MEDLINE search of cases of administration of tranexamic acid during epidural or spinal anaesthesia between 1960 and 2018. No reports of epidural administration were identified. We identified 21 cases of spinal tranexamic acid administration. Life-threatening neurological and/or cardiac complications, requiring resuscitation and/or intensive care, occurred in 20 patients; 10 patients died. We used a Human Factors Analysis Classification System model to analyse any contributing factors, and the reports were also assessed using four published recommendations for the reduction in neuraxial drug error. In 20 cases, ampoule error was the cause; in the last case a spinal catheter was mistaken for an intravenous catheter. All were classified as skill-based errors. Several human factors related to organisational policy; dispensing and storage of drugs and preparation for spinal anaesthesia tasks were present. All errors could have been prevented by implementing the four published recommendations.     

Emotional impact of genetic trials in progressive paediatric disorders: a dose‐ranging exon‐skipping trial in Duchenne muscular dystrophy

Background Gene‐modifying trials offer hope for improvement in chronic paediatric disorders, but they may also lead to disappointment and have an adverse emotional effect on families. This study aimed to examine emotional impact on participants in a paediatric exon‐skipping trial. Methods Nineteen male children with Duchenne muscular dystrophy (DMD), and their parents, taking part in a dose‐ranging study of an i.v. administered morpholino splice‐switching oligomer (which can restore the reading frame in DMD and induce dystrophin expression) underwent a psychosocial/psychiatric examination at trial entry. Emotional impact was assessed at trial completion using questionnaires. Results The mean child age was 8.9 years (SD 2.1); 13(68%) were attending mainstream school. Most families were well adjusted psychosocially at trial entry. Post‐trial median child emotional impact scores were 5/10 (n= 18), but impact was rated as positive by 6/14 (42%), neutral/mixed by 5 (35%) and negative by 3 (21%). Median post‐trial psychosocial/psychiatric change scores in children and parents were minimal. Actual post‐trial negative impact was statistically significantly associated with higher expected impact at trial entry, at which time the families of the three children displaying actual negative impact reported higher family stress levels in combination with a variety of other psychosocial risks factors. Conclusions In carefully selected families with low levels of psychosocial stress/distress at trial entry, and with good support from paediatric research units (including psychiatric input when required), genetic trials in progressive disorders such as DMD can have a predominantly positive or neutral emotional impact. Nevertheless, negative impact is reported by a minority of families and possible psychosocial predictors deserving further scrutiny have been identified.     

Analysis of compositional data in communication disorders research

The study of communication and its disorders often involves coding several behaviors and examining the proportions with which individual behaviors are produced within data sets. Problems are encountered when studying multiple behaviors between data sets, because of the interdependence of the proportions: as one coded behavior increases, at least one other must decrease. The interdependence of data means that traditional statistical techniques can be used to analyse differences in the proportion of only one behavior over time or between clinical groups. We describe a statistical technique, previously used in geological and biomedical research, which can be used to analyse all behaviors in compositional data sets, and give examples of its use with interaction data. The technique allows, for the first time, full comparison of entire patterns of multiple communication behaviors, both over time and between clinical groups. The technique will aid both basic and applied communication research. LEARNING OUTCOMES: Readers will understand the advantages and limitations of frequency counts and proportions for the analysis of multiple behaviors. Readers will be able to analyze change in proportions of multiple behaviors within a data set between groups and across time.     

Gelastic seizures in a child with focal cortical dysplasia of the cingulate gyrus

We present a case of gelastic seizures in a child with focal cortical dysplasia of the anterior cingulate gyrus. This is only the second published case of a confirmed lesion at this site presenting in such a way. The underlying neurological mechanism is described. Received: 23 October 1995 Accepted: 2 July 1996     

An interview study of 20 older brothers and sisters of mentally handicapped and non-handicapped children

SUMMARY: 20 older brothers and sisters of handicapped and non-handicapped children were interviewed. The results did not support the view that children are adversely affected by the presence of a handicapped child. The majority of differences found were between sex and age groups. Several points are made about the design of any future studies.     

MR susceptibility artefact associated with the use of Barricade coils for treatment of intracranial aneurysms

Magnetic resonance angiography (MRA) is commonly used to follow up patients after endovascular treatment for intracranial aneurysms. Magnetic resonance artefacts from coil constructs may impair image quality and jeopardise the evaluation of the effectiveness of treatment and review of adjacent vasculature. We present here a technical note on the usage of Barricade coils recently introduced at our institution. The MRA artefacts associated with these coils may make it impossible to ascertain aneurysm closure and anatomy. Hence these patients would need to be recalled for digital subtraction angiograms for a complete neuroradiological follow-up.