Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

BACKGROUND: Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we aimed to assess the feasibility of prospective measurement of these core outcomes during routine metabolic clinic visits. METHODS: We used existing cohort data abstracted from charts of 124 children diagnosed with MCAD deficiency who participated in a Canadian study which collected data from birth to a maximum of 11 years of age to investigate the frequency of clinic visits and quality of metabolic chart data for selected outcomes. We recorded all opportunities to collect outcomes from the medical chart as a function of visit rate to the metabolic clinic, by treatment centre and by child age. We applied a data quality framework to evaluate data based on completeness, conformance, and plausibility for four core MCAD outcomes: emergency department use, fasting time, metabolic decompensation, and death. RESULTS: The frequency of metabolic clinic visits decreased with increasing age, from a rate of 2.8 visits per child per year (95% confidence interval, 2.3-3.3) among infants 2 to 6 months, to 1.0 visit per child per year (95% confidence interval, 0.9-1.2) among those ≥ 5 years of age. Rates of emergency department visits followed anticipated trends by child age. Supplemental findings suggested that some emergency visits occur outside of the metabolic care treatment centre but are not captured. Recommended fasting times were updated relatively infrequently in patients' metabolic charts. Episodes of metabolic decompensation were identifiable but required an operational definition based on acute manifestations most commonly recorded in the metabolic chart. Deaths occurred rarely in these patients and quality of mortality data was not evaluated. CONCLUSIONS: Opportunities to record core outcomes at the metabolic clinic occur at least annually for children with MCAD deficiency. Methods to comprehensively capture emergency care received at outside institutions are needed. To reduce substantial heterogeneous recording of core outcome across treatment centres, improved documentation standards are required for recording of recommended fasting times and a consensus definition for metabolic decompensations needs to be developed and implemented.

Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome

Background and Objectives: A recent report highlighted the importance of considering a chromosomal abnormality in the differential diagnosis of adult clinical psychiatry. This case report illustrates the importance of considering Fragile X syndrome, an X-linked genetic disorder associated with psychiatric morbidities. Methods: A 45 years old woman was referred to the clinical genetics department by her psychiatrist for investigation of her gross obesity, hyperphagia, learning difficulties and affective disorder. Results: Cytogenetic analysis revealed a 47,XXX karyotype. Molecular testing identified an expansion of approximately 580 repeats in the FRAXA gene carried on two of her three copies of the X chromosome. Clinical evaluation revealed features consistent with the Prader-Willi like phenotype of Fragile X syndrome. Conclusions: It is important to consider molecular and cytogenetic testing in patients with dysmorphic features, complex neuro-behavioural profile and/or psychotic disorders in order to establish a causative diagnosis, provide adequate counseling and initiate cascade screening where applicable (AU)

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