Tuberous sclerosis complex in autism

To study the prevalence rate of tuberous sclerosis complex in autistic disorder. We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period [2005-2009], we collected a database of 429 children [390 boys and 39 girls; male to female ratio 10:1] with autistic disorder and pervasive developmental disorders. We routinely examined all children with autistic disorder for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots. In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up. Of these, five had tuberous sclerosis complex. Thus, the prevalence rate of tuberous sclerosis complex in autistic disorder is 1.17%. All of these children were mentally retarded with moderate to severe grades. Their IQ or developmental quotient was less than 70. The prevalence rate of tuberous sclerosis complex in autistic disorder was 1.17% in our region; autism spectrum disorder is a condition that might be associated with development of tuberous sclerosis complex

Correlation between hypoglycemia and positive rate of inborn error of metabolism in neonatal intensive care unit

To investigate the correlation between hypoglycemia and positive rate of inborn error of metabolism [IEM] in neonatal intensive care unit. 160 patients from a neonatal intensive care unit were enrolled. Blood glucose was measured by Roche Modular chemistry. The dry blood on filter papers, collected from 160 patients, was tested by tandem mass spectrometry to detect 35 inborn errors of metabolism. Clinical follow-up of all the patients was at least in an interval of 12 months. The mean observation period was 13.5 months per child. Based on the ROC curve, the optimal cut-off value of hypoglycemia as an indicator for screening for IEMs was projected to be 2.8 mmol/L, which yielded a sensitivity of 71.4% and a specificity of 76.5%. The patients were divided into two groups: hypoglycemia group [48 cases] and the control group [112 cases]. 5[10.4%] of the 48 patients in the hypoglycemia group were positive, while only 2[1.8%] of the 112 patients in the control group were positive. The difference of the positive rate in the screening for IEMs between the two groups was significant [X[2] =4.10, P<0.05]; the relative risk [RR] was 5.83 [95% CI: 1.06-32.12]. The risk of patients with hypoglycemia suffering from IEMs was significantly higher than that of the non-hypoglycemia patients in NICU, based on cut-off value of 2.8mmol/L

Liquid chromatography-tandem mass spectrometry for analysis of acylcarnitines in dried blood specimens collected at autopsy from neonatal intensive care unit / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To investigate the feasibility of analyzing acylcarnitine in dry filter-paper blood spots by liquid chromatography-tandem mass spectrometry (LC-MS/MS) which could be applied to detect inborn errors of metabolism in neonates.</p><p><b>METHODS</b>We obtained filter-paper blood from 26 dead infants from a neonatal intensive care unit (NICU) between October 1, 2008 and September 30, 2009. Acylcarnitine and amino acid profiles were obtained with LC-MS/MS. Four infants underwent routine autopsy. The postmortem blood specimens were compared with newborn blood specimens, and with specimens obtained from older infants with metabolic disorders.</p><p><b>RESULTS</b>Of all the 26 patients, 5 (19.2%) were diagnosed as having different kinds of diseases: 3 with methylmalonic acidemia (the concentration of C3, and the ratio of C3/C16, C3/C2 increased), 1 with maple syrup urine disease (the concentration of leucine and isoleucine increased), and 1 with isovaleric acidemia (the concentration of C5 increased).</p><p><b>CONCLUSIONS</b>Postmortem metabolic test can explain infant deaths and provide estimates of deaths attributable to inborn errors of metabolism in NICU. LC-MS/MS is suitable for analysis of postmortem specimens and can be considered for routine application in NICU autopsy.</p>