Nerve growth factor and angiotensin converting enzyme 2 levels in children with neurodevelopmental disorders.

OBJECTIVE: Neurodevelopmental disorders (NDDs) are the most common psychiatric disorders in childhood, and there are many factors in their etiology. In recent years, many biomarkers have been studied to elucidate the etiology of these disorders. In this study, it was aimed to investigate the levels of nerve growth factor (NGF) and angiotensin converting enzyme 2 (ACE2) in attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and intellectual disability (ID). METHODS: The study included 74 children with NDDs (the number of patients in ADHD, ASD and ID groups were 24, 25 and 25 respectively) and 30 healthy controls (HCs). Serum NGF and ACE2 levels were studied with ELISA kits, also complete blood count (CBC), levels of fasting glucose and serum lipids were assessed. RESULTS: ACE2 levels were found to be lower in NDD group than HCs in girls. In boys with ASD, triglyceride levels were significantly higher than other groups. Also a positive correlation was found between ACE2 and NGF levels when all sample assessed together. CONCLUSIONS: This study is a premise for investigating ACE2 and NGF in NDDs. The role of these markers in ADHD, ASD, ID and other NDDs and their associations with gender should be assessed by studies in which both larger sample groups and more disorders.

Decreased levels of alpha synuclein in families with autism spectrum disorder and relationship between the disease severity.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorders that begin in early childhood. Mutations in α-synuclein (SNCA) gene have been shown to result in the accumulation of α-synuclein, which occurs in many neurodegenerative diseases. Our aim was to determine the changes in the expression profile and protein level of this gene by comparing the autistic children with their healthy siblings, their mothers and healthy controls in order to elucidate the possible contribution of the SNCA gene to the etiology of ASD. 50 autistic patients, their mothers, siblings and 25 healthy controls and their mothers were enrolled to determine SNCA gene expression and serum α-synuclein levels. It was determined that α-synuclein serum levels decreased in the autistic patients. Similarly, it was found that SNCA gene expression and serum α-synuclein levels were significantly decreased in the mothers of the patients. Significant negative correlation was observed between the SNCA gene and protein expression amounts in the 6-8 age of the patients. This family-based study is the first in the literature, with both gene expression and serum levels of α-synuclein. The relationship between ASD severity and α-synuclein level needs to be confirmed in larger-scale studies.

Relationship between Doppler findings and fetal brain apparent diffusion coefficient in early-onset intra-uterine growth restriction.

OBJECTIVE: The aim of the study is to assess the relationship between uteroplacental Doppler sonography findings and cerebral diffusion measured by diffusion-weighted magnetic resonance imaging (DWI) in fetuses with early-onset intrauterine growth restriction (IUGR). MATERIALS AND METHODS: The study included 54 pregnant women with fetal IUGR and 15 healthy controls (n: 15). Fetuses with IUGR were classified into four groups based on Doppler findings: group 1 (n = 12), umbilical artery (UA) pulsatility index (PI) > 95pc; group 2 (n = 11), UA PI >95 pc and middle cerebral artery PI < 5pc; group 3 (n = 21), absent end-diastolic (A-EDF) in UA; group 4 (n = 10), reversed EDF in UA. After Doppler evaluation, DWI was performed in all patients within hours. The groups were compared with respect to apparent diffusion coefficient (ADC) levels. FINDINGS: In cases with fetal IUGR, significant decreases were detected in ADC values of periatrial white matter (PAWM) (p = .01), frontal white matter (FWM) (p = .038), thalamus (p = .004), and basal ganglia (p = .013) compared to controls. In Doppler subgroup analysis adjusted for gestational age, ADC values of FWM, thalami, and pons were significantly lower in group 4 than control group (p = .02, p = .02, and p = .037, respectively). In PAWM, ADC values were significantly lower in group 4 than control and Group 1 (p = .004). No significant differences with regard to ADC values in basal ganglia, cerebellum was found between Doppler groups and control. CONCLUSIONS: In fetuses with IUGR, ADC values as measured by DWI decreases. The critical Doppler finding that is associated with reduced diffusion in some brain areas (FWM, PAWM, thalami, pons) is reverse end-diastolic flow in umbilical artery. Further prospective studies with larger sample size are needed to introduce cerebral ADC values in the management of IUGR.