ABSTRACT
The NR1H2 gene produces the Liver X Receptor Beta (LXRB) protein, which is crucial for brain cholesterol metabolism and neuronal development. However, its involvement in autism spectrum disorder (ASD) remains largely unexplored, aside from animal studies. This study is the first to explore the potential link between autism and rs2695121/rs17373080 single nucleotide polymorphisms (SNPs) in the regulatory regions of NR1H2, known for their association with neuropsychiatric functions. Additionally, we assessed levels of oxysterols (24-Hydroxycholesterol, 25-Hydroxycholesterol, 27-Hydroxycholesterol), crucial ligands of LXR, and lipid profiles. Our cohort comprised 107 children with ASD and 103 healthy children aged 2-18 years. Clinical assessment tools included the Childhood Autism Rating Scale, Autistic Behavior Checklist, and Repetitive Behavior Scale-Revised. Genotyping for SNPs was conducted using PCR-RFLP. Lipid profiles were analyzed with Beckman Coulter kits, while oxysterol levels were determined through liquid chromatography-tandem mass spectrometry. Significantly higher total cholesterol (p = 0.003), LDL (p = 0.008), and triglyceride (p < 0.001) levels were observed in the ASD group. 27-Hydroxycholesterol levels were markedly lower in the ASD group (p ≤ 0.001). ROC analysis indicated the potential of 27-Hydroxycholesterol to discriminate ASD diagnosis. The SNP genotype and allele frequencies were similar in both groups (p > 0.05). Our findings suggest that disturbances in oxysterol metabolism, previously linked to neurodegeneration, may constitute a risk factor for ASD and contribute to its heterogeneous phenotype.
ABSTRACT
BACKGROUND: The present study examined the different aspects of infant-mother relationships in adolescent mothers and compared them in adult mothers. METHODS: Children aged 18-40 months who were referred to our outpatient Infant Mental Health Department were analysed retrospectively. Sociodemographic data, Parent-Infant Relationship Global Assessment Scale (PIR-GAS) scores, and Emotional Availability (EA) Scales scores were analysed. Twenty-nine adolescent mothers being younger than 20 years at the beginning of pregnancy and thirty mothers who were aged at least 25 years were enrolled the same data as adult mother group. RESULTS: In the adolescent mothers group, the education years of the mothers, the ratio of mothers having professions were significantly lower (p < 0.001); the spousal age gap was significantly higher than among the adult mothers (p < 0.001). It was also found that an underinvolved relationship pattern was seen more frequently among the mother-infant dyads in the adolescent mothers' group than in the adult mothers group (p = 0.002). CONCLUSIONS: Although there were not found many problems in terms of the relationship of adolescent mothers with their infants/toddlers in the current study this may have been due to a small sample, we would like to emphasise that the problems should be detected and appropriate interventions should be made for adolescent mothers.Key pointsOur main aim for this study was assesment of the effect of adolescent motherhood in terms of infant\toddler-mother relationshipOur findings showed that lower education level and being unemployed were higher in adolescent mothers group.Higher age gap between spouses was found to be associated with adolescent motherhood. Underinvolved relationship was highly prevalent among adolescent mothersOur findings suggest that early motherhood is a risk factor for mother-infant\toddler-relationship and parenthood.Intervention and education programs during and after pregnancy for adolescent girls may help them to prepare for motherhood more consciously and form established relationships with their infants.
