Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare disorder of bile acid synthesis caused by deficiency of the enzyme sterol 27-hydroxylase. It results in deficiency of bile acids and accumulation of abnormal bile alcohols and accelerated cholesterol synthesis. CTX usually presents in the second or third decade with slowly progressive neurological dysfunction, cerebellar ataxia and premature atherosclerosis. Treatment with bile acid supplementation improves but does not completely reverse the neurological signs and symptoms. However, CTX is now known to be associated with a period of neonatal cholestasis. If it is diagnosed at this point, treatment may prevent the onset of neurological problems. We present the case histories and developmental findings in two affected siblings treated from infancy. We plan to continue regular neurodevelopmental reviews.

Background: Proton Magnetic Resonance Spectroscopy (1H-MRS) is a non-invasive imaging technique that enables quantification of neurochemistry in vivo and thereby facilitates investigation of the biochemical underpinnings of human cognitive variability. Studies in the field of cognitive spectroscopy have commonly focused on relationships between measures of N-acetyl aspartate (NAA), a surrogate marker of neuronal health and function, and broad measures of cognitive performance, such as IQ.Methodology/Principal Findings: In this study, we used 1H-MRS to interrogate single-voxels in occipitoparietal and frontal cortex, in parallel with assessments of psychometric intelligence, in a sample of 40 healthy adult participants. We found correlations between NAA and IQ that were within the range reported in previous studies. However, the magnitude of these effects was significantly modulated by the stringency of data screening and the extent to which outlying values contributed to statistical analyses.Conclusions/Significance: 1H-MRS offers a sensitive tool for assessing neurochemistry non-invasively, yet the relationships between brain metabolites and broad aspects of human behavior such as IQ are subtle. We highlight the need to develop an increasingly rigorous analytical and interpretive framework for collecting and reporting data obtained from cognitive spectroscopy studies of this kind.

The anglicised version of the Paediatric Cardiac Quality of Life Inventory appears to be a linguistically valid measure of health-related quality of life for children and adolescents with cardiac disease. The psychometric properties of the anglicised Paediatric Cardiac Quality of Life Inventory are now being tested in a multi-centre study in the United Kingdom.

AimsWith the continued success of treating children and adolescents with congenital (CHD) or acquired heart disease, we now need to assess quality of life (QoL) outcomes rather than simple mortality. The Pediatric Cardiac Quality of Life Inventory (PCQLI) is a new self-administered disease-specific QoL measure, comprising both patient and parent–proxy reporting and recently shown to be reliable and valid in the USA. The purpose of the current trial was to assess reliability and validity of the PCQLI scores in the UK.MethodsThree UK tertiary paediatric cardiac centres recruited patients aged 8–18 years with congenital or acquired heart disease. Patient–parent pairs completed the PCQLI, a generic QoL measure (PedsQL4.0) and non-QoL instruments (Self Perception Profile for Children/Adolescents (SPPC/A); Achenbach Youth Self Report Form and Child Behavior Checklist). Test-retest reliability was performed by administering the PCQLI at two time points and assessed by correlation coefficients. Validity was assessed by correlation of PCQLI scores between patients and parents and with severity of CHD, medical care utilisation, and PedsQL, SPPC/A and Achenbach scores.ResultsThis preliminary study was completed by 125 child-parent pairs and 125 adolescent-parent pairs. Diagnostic categories were biventricular repair (40%), Fontan palliation (20%), unrepaired CHD (20%), heart transplantation (2.8%) and acquired heart disease (17.8%). Correlations evaluating test-retest reliability ranged from 0.64–0.9. Correlations for patient and parent scores were moderate for both child and adolescent groups (0.49–0.72). Lower PCQLI scores were associated with Fontan palliation (p<0.001) and increasing number of hospitalisations (p<.005) and cardiac catheterisations (p<.001). Scores for the PCQLI and generic QoL measure were highly correlated (0.66–0.77). Lower PCQLI total scores were associated with lower global self-worth on the SPPC/A (p<.001) and lower total competency scores on the Achenbach measures (p<.001).ConclusionsPreliminary analysis of PCQLI data collected in the UK suggests that it is a reliable and valid disease-specific QoL measure for children and adolescents with congenital or acquired heart disease. This novel tool will allow for outcomes assessment in the paediatric cardiac population.

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