Autistic children exhibit distinct plasma amino acid profile.

In order to ascertain whether autistic children display characteristic metabolic signatures that are of diagnostic value, plasma amino acid analyses were carried out on a cohort of 138 autistic children and 138 normal controls using reverse-phase HPLC. Pre-column derivatization of amino acids with phenyl isothiocyanate forms phenyl thio-carbamate derivates that have a λmax of 254 nm, enabling their detection using photodiode array. Autistic children showed elevated levels of glutamic acid (120 ± 89 vs. 83 ± 35 mmol/L) and asparagine (85 ± 37 vs. 47 ± 19 mmol/L); lower levels of phenylalanine (45 ± 20 vs. 59 ± 18 mmol/L), tryptophan (24 ± 11 vs. 41 ± 16 mmol/L), methionine (22 ± 9 vs. 28 ± 9 mmol/L) and histidine (45 ± 21 vs. 58 ± 15 mmol/L). A low molar ratio of (tryptophan/large neutral amino acids) × 100 was observed in autism (5.4 vs 9.2), indicating lesser availability of tryptophan for neurotransmitter serotonin synthesis. To conclude, elevated levels of excitatory amino acids (glutamate and asparagine), decreased essential amino acids (phenylalanine, tryptophan and methionine) and decreased precursors of neurotransmitters (tyrosine and tryptophan) are the distinct characteristics of plasma amino acid profile of autistic children. Thus, such metabolic signatures might be useful tools for early diagnosis of autism.

Low serum levels of 25-hydroxyvitamin D (25-OHD) in children with autism / Baixos níveis séricos de 25-hidroxivitamina D (25-OHD) em crianças com autismo

Objective: To confirm previous evidence suggesting an association between autism and low vitamin D serum levels. Methods: This preliminary exploratory study assessed the circulating levels of 25-hydroxyvitamin D (25-OHD) in pediatric patients with autism and in typically developing controls from Juiz de Fora, Brazil. Results: Serum levels of 25-OHD were lower in children with autism (26.48 ± 3.48 ng mL-1) when compared to typically developing subjects (40.52 ± 3.13 ng mL-1) (p < 0.001). Conclusion: Our findings attest to the importance of vitamin supplementation during pregnancy and in the treatment of children with autism, who tend to present low vitamin D consumption rates (AU)

Objetivo: Confirmar evidências prévias indicando uma associação entre autismo e baixos níveis séricos de vitamina D. Métodos: Este estudo preliminar avaliou os níveis circulantes de 25-hidroxivitamina D (25-OHD) em pacientes pediátricos com autismo e em controles apresentando desenvolvimento típico em Juiz de Fora, Brasil. Resultados: Os níveis séricos de 25-OHD foram menores em crianças com autismo (26,48 ± 3,48 ng mL-1) em comparação com indivíduos com desenvolvimento típico (40,52 ± 3,13 ng mL-1) (p < 0,001). Conclusão: Nossos resultados confirmam a importância da suplementação de vitamina durante a gravidez e no tratamento de crianças com autismo, que costumam apresentar um baixo consumo de vitamina D (AU)

Levels of myelin basic protein and its antibodies in the serum of the patients with neurological disease [autism, multiple sclerosis]

Myelin basic protein [MBP] is an important part of myelin sheets, and it's breakdown plays an important role in many nervous diseases, and it was thought that the destruction of MBP occur by the formation of MBP antibodies. So the aim of our study is to detect the differences of MBP and MBP-Abs levels between the patients with multiple sclerosis [MS], autism and epilepsy and apparently healthy controls. the study group involved 92 samples [32 patients with autism, 19 patients with MS, 20 patients with epilepsy, 21 controls], and the determination of MBP and MBP-Abs was achieved by the enzyme-linked immune sorbent assay [ELISA]. the ratio of MBP was higher in the patients with MS [53%], and autism [31%] than the patients with epilepsy [10%], and healthy control [5%]. the ratio of MBP-Abs was higher in the patients with MS [36%], and autism [38%] than the patients with epilepsy [15%] and healthy control [5%]. The presence of MBP or MBP-Abs in the patient's serum indicate to the presence of autoimmune problem and may help to direct the treatment

Evaluation of some epidemiological characteristic and biochemical parameters among Egyptian autistic children

One of the settled facts in the etiology of autism is that genetic and environmental factors play a role in its occurrence. However, the recent dramatic increase in autism prevalence world, suggests other factors to be involved in its etiology. Most of the studies reported associations but not possible risk factors in the etiology of autism. The present work aimed at determining some epidemiological characteristics of Egyptian autistic children including the study of some incriminated perinatal factors. As well as biochemical assessment of metabolic disturbances with special stress on fatty acids and trace elements in the autistic children compared to their healthy siblings. Sixty children were included in the study, divided into two groups; a group that consisted of forty children who fulfilled the criteria of pervasive developmental disorders and a group of twenty apparently healthy siblings matched by age, sex, and social status to the autistic children. All the children were subjected to a thorough history taking and clinical examination including anthropometric measurements, Laboratory investigations included the determination of some routine biochemical parameters in blood and urine, serum and blood levels of some trace elements [copper, zinc, lead, and cadmium] using the atomic absorption spectrophotometry, serum total and individual fractions of fatty acids [using gas liquid chromatography] and urinary vanillyl mandelic acid [VMA]. The present work revealed a significant increase in head circumference measurement of autistic children compared to their control group and the gestational age as the only significantly different perinatal factor between th groups. A significant lower serum zinc and higher blood lead and cadmium mean values were observed in autistic children, along with significant rise in the ratios of copper to zinc, cadmium to zinc and lead to zinc. As regards the fatty acids, the omega 3 fatty acids were significantly lower in autistic children than the corresponding siblings, along with a significantly higher omega 6 to 3 ratio in autistic children in addition, the arachidonic acid ecosapentadecanoic acid ratio was significantly higher in autistic children than the corresponding siblings. Serum stearic acid was significantly higher while serum docosanoic acid and its methyl ester were significantly lower in autistic children than their healthy siblings. The urinary VMA and uric acid to creatinine ratios were .significantly higher in autistic children when compared to their healthy siblings. Correlation studies of omega 3 fatty acids with other parameters demonstrated positive correlation with serum zinc level and inverse correlations with blood lead, autistic head circumference, as well as lead/zinc, cadmium/zinc, urine uric acid and urine VMA to creatinine ratios. From the present work, it could be concluded that head circumference is an important determinant of autistic children. The disturbance in metal metabolism noted in this study by the significantly lower serum zinc which is important as a neurotransmitter and the significantly higher blood cadmium and lead levels could denote a dysfunction in metallothionein protective detoxification of cadmium and lead resulting in increased vulnerability these toxins. Another finding is the deficiency of essential fatty acid particularly the omega3 series including Eicosapentaenoic [EPA] and Docosahexaenoic [DHA] as well as the complete absence of linolenic acid could be responsible for the suppression of brain energy metabolism, and alteration of the course of brain development. In lion, neurochemical factors could play a role in autism as demonstrated by the increased urinary VMA in autistic children that denotes frequent stressful conditions to which autistic children are subjected to

Investigação molecular por PCR da síndrome do cromossomo X frágil em homens com transtornos invasivos do desenvolvimento / Molecular investigation by PCR of fragile X syndrome in men with pervasive development disorders

Os transtornos invasivos do desenvolvimento afetam cerca de 2-5 a cada 1.000 crianças, interferem no desenvolvimento emocional e cognitivo e caracterizam-se por prejuízo severo do desenvolvimento, comportamento esteriotipado, interesses e atividades restritas. Incluem cinco diagnósticos: Transtornos desintegrativo da infância> Transtornos invasivos do desenvolvimento sem outra especificação, Síndrome de Rett e de Asperger e Autismo. Tais transtornos têm sido associados a várias doenças genéticas, com destaque para a Síndrome do Cromossomo X Frágil, que resulta de mutações no gene FMR-1 e é a maior causa de retardo mental em meninos. Este trabalho teve como objetivo investigar a presença da mutação completa do gene FMR-1, com a utilização da técnica de Reação em Cadeia da Polimerase (PCR), em homens poratdores de Transtornos Invasivos do Desenvolvimento. Entre os 25 indivíduos estudados, um apresentou a mutação completa. A frequência de 4 por cento da síndrome corrobora os dados da literatura e reforça o conceito de que esta doença representa um fator etiológico importante e deve ser investigada em todo indivíduo com estes distúrbios comportamentais, inclusive por suas implicações no processo de Aconselhamento Genético das famílias

Autismo infantil y esquizofrenia: estudio ultraestructural comparativo de la sangre periferica

Se realiza un estudio ultraestructurall comparativo entre los hallazgos obtenidos en la sangre periferica de pacientes esquizofrenicos y los observados en un estudio similar en la sangre de un nino con autismo infantil. La presencia de vacuolizacion en las plaquetas fue un elemento comun aunque con caracteristicas distintas en cada patologia. Cuerpos de inclusion intranucleares y bacterias relacionadas con particulas semejantes a virus fueron observadas en ambas condiciones patologicas. La ausencia de estudios similares en la literatura mundial destaca la importancia de los resultados obtenidos

Serum serotonin levels of normal and autistic children

1. Serum serotonin (5HT) was determined in normal and autistic children by high performance liquid chromatography with electrochemical detection (HPLC-ED), after serum deproteinization. 2. The sample deproteinization was carried out by the addition of 3.4 M HCLO4 to a small volume of the serum, followed by freezing, centrifugation, dilution and injection of sample into the HPLC. 3. Serum 5HT concentration was significantly increased in autistic children (303 +/- 92 ng/ml) (N = 19) when compared to that of normal children (215 +/- 67 ng/ml) (N = 46). The data of normal children analyzed by ANOVA for sex or age showed no difference. 4. The method employed in this study showed high resolution, good sensitivity and can be used for routine determination of serum 5HT in the clinical investigation of hyperserotonemia in autism