A voxel-wise assessment of growth differences in infants developing autism spectrum disorder.

Autism Spectrum Disorder (ASD) is a phenotypically and etiologically heterogeneous developmental disorder typically diagnosed around 4 years of age. The development of biomarkers to help in earlier, presymptomatic diagnosis could facilitate earlier identification and therefore earlier intervention and may lead to better outcomes, as well as providing information to help better understand the underlying mechanisms of ASD. In this study, magnetic resonance imaging (MRI) scans of infants at high familial risk, from the Infant Brain Imaging Study (IBIS), at 6, 12 and 24 months of age were included in a morphological analysis, fitting a mixed-effects model to Tensor Based Morphometry (TBM) results to obtain voxel-wise growth trajectories. Subjects were grouped by familial risk and clinical diagnosis at 2 years of age. Several regions, including the posterior cingulate gyrus, the cingulum, the fusiform gyrus, and the precentral gyrus, showed a significant effect for the interaction of group and age associated with ASD, either as an increased or a decreased growth rate of the cerebrum. In general, our results showed increased growth rate within white matter with decreased growth rate found mostly in grey matter. Overall, the regions showing increased growth rate were larger and more numerous than those with decreased growth rate. These results detail, at the voxel level, differences in brain growth trajectories in ASD during the first years of life, previously reported in terms of overall brain volume and surface area.

Update on Dietary Compliance, Nutritional Status, and Neuropsychological Functioning in the Chilean Phenylketonuria cohort

Abstract Since 1992, Chile has had a Newborn Screening Program for Phenylketonuria (PKU), which currently has an incidence of 1:18,916 newborns. The objective of the current study was to describe the 2020 follow up of the Chilean PKU cohort. The variables analyzed were: nutritional status, dietary compliance and neuropsychological functioning. We conducted a descriptive cross-sectional statistical analysis. The 271 subjects with PKU had an average age of diagnosis of 17±8 days and a phenylalanine (Phe) level of 1122±546 umol/L. Approximately 80% of protein requirement came from a protein substitute. For those <18 years of age, 80% had good dietary compliance with Phe level between 120-360 umol/L and those >18 years had a median of 522 umol/L (95%CI 468 - 636). Forty-four percent of the active PKU cohort had overweight/obesity. Eighty-five percent of the cohort >4 years of age had a normal intelligence quotient (IQ) (score 80-120). We observed a negative correlation (p <0.001; 95% CI: - 0.5, -0.2) between IQ score and Phe level. The Chilean protocol and protein substitute subsidy for life, together with the follow-up and continuous education carried out by the clinical team has encouraged compliance.

Biochemical characterization of two purified proteins of the IB-16 Bacillus thuringiensis strains and their toxicity against the sheep nematode Haemonchus contortus in vitro.

The aim of this study was to characterize the biochemical composition of two main IB-16 Bacillus thuringiensis proteins and to determine their toxicity on the blood-feeder nematode, Haemonchus contortus. The soluble toxin of IB-16 strain of B. thuringiensis produces five main bands of proteins, the chemical composition of which might play an important role on the lethal activity. Two bands of proteins around 25 and 70 kDa were chosen and purified by HPLC using a hydrogel column and sephadex-beads G-50. Biochemical analysis was carried out to determine enzyme and carbohydrate moieties on purified fractions of the 25 and 70 kDa proteins. In addition, in vitro assays were carried out using H. contortus histiotropic larvae (L(4)) and the purified fractions. Biochemical results showed only enzyme activity in the purified fraction of the 25 kDa protein using gelatine as the substrate. In contrast, carbohydrate moieties were only observed in the purified fraction of the 70 kDa protein. Moreover, IB-16 B. thuringiensis purified fractions of 70 and 25 kDa showed lethal activity of 67.1% and 17.3% of toxicity on H. contortus L(4), respectively.

[Risk factors for psychomotor development among infants born under optimal biological conditions]. / Factores de riesgo para el desarrollo psicomotor en lactantes nacidos en óptimas condiciones biológicas.

OBJECTIVE: The objective of this study is to evaluate the effect of risk factors on infant development, among low socioeconomic children born under optimal biological conditions, and who are exposed to adverse social circumstances. METHOD: Infants of both sexes, in the amount of 788, were studied and controlled prospectively at between 6 and 12 months. Their mental (MDI) and psychomotor (PDI) development was evaluated using the Bayley Scale of Infant Development. Eighteen risk factors were identified and dichotomized (high or low risk). RESULTS: Breast feeding, child temperament, maternal intelligence and home stimulation are consistently associated with lower MDI and PDI. After adjustment for co-variables, home stimulation persisted as a significant factor for explaining the variation of both developmental indexes and child sex also appears as a risk factor for motor skills development. The accumulated effect of 7 or more risk factors is associated with a significant decrease of development scores. The combination of risk categories of child temperament, maternal IQ, paternal role and home stimulation shows higher prediction power for infant development than other combinations analyzed in this study. CONCLUSION: The findings suggest than even for children born under optimal biological conditions their psychomotor development is negatively affected by the presence of simultaneous adverse environmental conditions.

Intellectual and physical outcome of children undernourished in early life is influenced by later environmental conditions.

Thirty-five schoolchildren who share a common history of early undernutrition and who were reared after recovery by adoptive families (16), in institutional care (eight) or by their biological families (11) were assessed for physical and intellectual outcome. The adopted children had mean normal weight and height for age, but the children from institutions were significantly shorter. Adopted children had mean Full-scale, Verbal and Performance IQs in the normal ranges, with significant differences from the other two groups, mainly for the Verbal subscale. These results emphasize that the growth and development of early-undernourished children are not irreversibly fixed by the acute illness, but are highly sensitive and modifiable by early and stable environmental improvement.

[Treatment of true precocious puberty with medroxyprogesterone acetate]. / Tratamiento de la pubertad precoz verdadera con acetato de medroxiprogesterona.

The authors analyze the treatment of 16 female infants with true precocious puberty, ages ranging from 12 months to 9.5 years at the time of diagnosis, based on clinical and laboratory findings. All patients were treated with 150 to 300 mg. every 15 to 20 days of injectable medroxyprogesterone acetate (MPA) for periods from 5 months to 6 years. The prognosis of the adult height was evaluated before and during MPA treatment using the following parameters: height velocity as a function of bone age (good response of 15 patients); height as a function of bone age (good response of 13 patients); developmental quotient (good response of 14 patients), and adult height prognosis by the use of the tables of Bayley & Pinneau (good response of 8 out of 10 patients). The authors conclude that MPA treatment was effective in improving the prognosis of adult height in 14 out of 16 patients of true precocious puberty.