Establishment of Age Specific Reference Interval for Aminoacids and Acylcarnitine in Dried Blood Spot by Tandem Mass Spectrometry.

The Extended Screening for Inborn Errors of Metabolism is done for aminoacidopathies, fatty acid oxidation disorders and organic acid disorders. In a single dried blood spot, the tandem mass spectrometry is capable of measuring multiple analytes like amino acids, acylcarnitines, nucleosides, succinylacetone and lysophosphatidylcholines. This study was proposed to establish age specific reference internal for aminoacids and acylcartinitine in dried blood spot by tandem mass spectrometry. A total of 480 apparently healthy children were enrolled for the study and sub classified into four groups as follows: Group A: 0-1 month, Group B: 1 month-1 year, Group C: 1-5 year and Group D: 5-12 years each having 120 participants. Sample size were calculated as per CLSI approved guidelines. Tables 1 and 2 presents the age-specific percentile distribution of aminoacids and acylcarnitines established from healthy subjects as per rank-based method recommended by the IFCC and CLSI. Tables 3, 4 and 5 presents the cut-off values of primary and secondary marker/ratios for screening of aminoacidopathies, fatty acid oxidation disorders and organic acid disorders respectively. As a general principle, the interpretation of extended newborn screening results should be based on age specific cut-off established by the laboratory for primary analyte concentration and secondary analyte concentration/ ratios. This study was useful in establishing age specific cut-off values for various amino acids and acylcarnitines in South Indian population. [Table: see text] [Table: see text] [Table: see text] [Table: see text] [Table: see text].

Two-Year Follow-up of Isolated Epileptiform Discharges in Autism: An Endophenotypic Biomarker?

Context: A significant subset of autistic children exhibit abnormal isolated epileptiform discharges (IEDs) in the absence of clinical epilepsy. The etiological significance of such IEDs is under much debate. Aims: The aim is to study the relationship between IEDs with risk factors, clinical severity, behavioral problems, and social-quotient and follow-up for the occurrence of new seizures. Settings and Design: This study was a prospective double-blind comparative study of autistic children with and without IEDs. Subjects and Methods: All autistic children attending Child Psychiatry Department of tertiary care postgraduate teaching hospital in April 2013 were included in the study. Electroencephalography, risk factors, and clinical severity were assessed. The same cohort of 72 children was followed for 2 years and reassessed. Statistical Analysis Used: Independent sample t-test, Chi-square test, Pearson correlation, and linear by linear association were the statistical methods used. Results: Twenty-four (42%) of the followed up sample exhibited IEDs. 10.52% had converted to clinical seizures within the follow-up period. While there was no difference between risk factors and age at diagnosis between the IED and non-IED groups, there was a significant difference between disease severity, behavioral problems and social quotient between the groups. Conclusions: IED in a subgroup of autistic children point to more severe illness, severe behavioral problems, and severe social impairment over a 2-year follow-up period. Can IED be considered a neurobehavioral endophenotype in autism?

Fazio Londe syndrome: A treatable disorder.

Fazio Londe Syndrome is a rare neurological disorder presenting with progressive bulbar palsy with respiratory failure. Initially considered to have an unrelenting course, is now found to be due to mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transporter in some children. We report an 11-year-old child with features of Fazio Londe syndrome who presented to our Institute with respiratory failure.

hypertensive intracranial bleed due to mid aortic syndrome.

The authors describe an 11-y-old child with intracranial bleed due to malignant hypertension. Child presented with hypertension, right hemiparesis, feeble femoral pulses and lower limb blood pressure less than the upper limb. CT angiogram revealed narrowing of the abdominal aorta with thinned out left renal artery and hypoplasia of the left kidney. A diagnosis of Mid aortic syndrome was arrived at. CT brain revealed left ganglio capsular bleed. Child was treated with antihypertensives and steriods in view of suspected Takayasu arteritis. Child recovered with minimal hemiparesis and is being followed up.