Investigation of Liver X Receptor Gene Variants and Oxysterol Dysregulation in Autism Spectrum Disorder.

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.

The validity and reliability of preschool age psychiatric assessment (PAPA) in Turkish population.

INTRODUCTION: The Preschool Age Psychiatric Assessment (PAPA) was developed in response to the need for a standard and reliable tool for assessing preschool-age psychiatric disorders. The aim of this study was to translate PAPA into the Turkish language and evaluate the validity and reliability. METHODS: The researchers translated the original PAPA to Turkish, and the Turkish version of PAPA was translated back into its original language by professional translators. After the psychiatric assessment of the 300 patients by child psychiatrist, the PAPA interview was implemented with the parents. The sociodemographic data form and the PAPA short forms were filled out by the clinician conducting the interview. The Child Behavior Checklist for Ages 1.5-5 (CBCL/1½-5) was completed by parents. RESULTS: The rate of detecting true positives and true negatives in all subscales when comparing PAPA with CBCL in children under 60 months ranged from 65% to 88%. The AUC values were above 50%, ranging from 0.56 to 0.72, indicating that PAPA performed reasonably well in detecting true positives and true negatives compared to CBCL. According to DC: 0-5, it was found that the adjustment was good for total psychopathologies, separation anxiety disorder, social anxiety disorder, and depression (κ = 0.67-0.79), and excellent for GAD and PTSD (κ = 0.81-1.00) CONCLUSION: The validity and reliability obtained from this study are valuable in our country for the objective identification of preschool children showing problematic symptom levels and for distinguishing them from children showing typical characteristics.

Does methylphenidate treatment affect functional and structural ocular parameters in patients with attention deficit hyperactivity disorder? - A prospective, one year follow-up study.

Purpose: Methylphenidate hydrochloride, which blocks the reuptake mechanisms of dopamine and norepinephrine, is used in attention deficit hyperactivity disorder (ADHD) treatment. Methylphenidate has many general side effects including ocular findings. In this study, we investigated the long-term effects of methylphenidate treatment on functional and structural ocular parameters. Methods: In this prospective study, children with ADHD were evaluated. All patients underwent a detailed ophthalmic examination before methylphenidate treatment. All patients were examined in the 3rd, 6th, 9th, 12th months of methylphenidate treatment. Visual acuities, color vision, pupil diameters, static, dynamic and cycloplegic retinoscopy, intraocular pressure (IOP), anterior chamber depth (ACD), axial length (AL) were evaluated and recorded. Results: A total of 22 children were included in this study. The best-corrected visual acuities (BCVA) of all patients for both eyes were 0.0 logMAR, and 90.9% of patients had blue-purple color weakness before the treatment. After 1 year of treatment, none of the patients had any change in BCVA and color vision. However, an increase in myopic values of static retinoscopy and a decrease in hyperopic values of cycloplegic retinoscopy were found. Additionally, accommodation capacities were found to be decreased and AL was found to be increased significantly for both eyes. Pupil diameter, IOP, and ACD values did not change significantly. Conclusion: Our results suggest that patients with ADHD may have blue color vision deficiencies because of the decreased retinal dopamine levels. Additionally, structural and ocular parameters, especially accommodation capacity, may be affected by methylphenidate treatment.

How does adolescent motherhood affect mother-infant/toddler relationship and emotional availability.

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.

Parent-child interaction, parental attachment styles and parental alexithymia levels of children with ASD.

AIM: Given the recent findings regarding the increased evidence for the presence of the alexithymia in parents of children with autism spectrum disorder (ASD), the construct of alexithymia in parents of children with ASD and its effect on adult romantic attachment style of parents, family functioning and parent-child relationship were investigated. METHODS: The sample included children diagnosed as having ASD, developmental delay (DD), and 27 typically developing children aged 1-5 years and their parents. The Crowell procedure, an observational and structured assessment was performed, and the quality of the parent-child relationship was assessed using the Parent-Infant Relationship-Global Assessment Scale (PIR-GAS) based on DC: 0-5. The Toronto Alexithymia Scale-20, Experiences in Close Relationships Revised, and the Family Assessment Device were administered to the parents. RESULTS: PIR-GAS scores were lower in the ASD group compared with the scores of the other groups. Family functioning rated by fathers of children with DD was lower than in the other groups. However, there was no significant difference between the groups in terms of alexithymia levels, and parent's own attachment styles in romantic relationships. CONCLUSIONS: ASD was found to be an independent predictor for disordered relationship between children and their parents. Appropriate family interventions focusing on enhancing social interaction and emotional development may be beneficial in the treatment of ASD.

Voices of adolescent incest victims: A qualitative study on feelings about trauma and expectations of recovery.

BACKGROUND: Incest, is a serious social problem facing society and children/adolescents themselves. The purpose of this study is to explore the ways adolescents talk about and give meaning to their experiences of incest concerning cultural, ethnic factors relevant to southeastern of Turkey. METHOD: We focused on in-depth interviews of five incest victims (14-16 years girls, from low socioeconomic status in southeastern of Turkey). RESULTS: Four key themes were constructed from the qualitative analysis: 1. Unable to understand/Delayed meaning-making: Adolescents provided definitive information about the first abuse memory but they were also unable to understand what they had experienced so they delayed meaning making. 2. Dysfunctional coping style with the incest: Adolescents told that they threatened the perpetrators in various phases of incest. 3. Avoidance of eye contact by the perpetrator: We recognized that perpetrators avoided social contact with the victim. This theme evokes dehumanizing of women during incest. 4. The urge to destroy happy memories: This theme presents data on the adolescents' expectations about recovery. CONCLUSION: According to the themes, two fundamental therapeutic precepts could guide the treatment process for adolescent girl incest survivors: 1. Exploration of the delayed meaning making: Therapist could address dysfunctional family functioning and explain that it is normal for a child to be delayed in meaning making. 2. Recovery of the adolescent's lost self after semantic dehumanization in abuses: Therapist should help her to dispute irrational beliefs about worthlessness and to gain control of her body.

Temperament and Character Traits of Parents of Children With ADHD.

OBJECTIVE: This study investigates the relationship between ADHD and the personalities of parents of children with ADHD. METHOD: Personality traits of parents of children with ADHD (study group; n = 135) and parents of children without ADHD (control group; n = 122) were compared. Psychiatric comorbidities were excluded with Structured Clinical Interview for DSM-IV Axis I Disorders, Clinical Version [SCID-I-CV]. Personality is assessed with Temperament and Character Inventory, and inattention (IA) and hyperactivity (HI) are assessed with Turgay Scale. RESULTS: Harm avoidance and persistence scores were higher, and self-directedness (SD) scores were lower in the study group than the control group. Being in ADHD group predicted lower SD scores. Positive correlations were found between harm avoidance and IA and HI, and between persistence and HI. Negative correlations were found between SD and both IA and HI. CONCLUSION: Our data suggest that there is relationship between ADHD in children's and parents' personalities. Common etiologic properties and personalized psychoeducation and treatment options for families should be discussed.

Affective Temperaments in Parents of Children with Attention Deficit Hyperactivity Disorder.

INTRODUCTION: The objective of this study was to investigate affective temperaments of parents of children with ADHD and the relationship between ADHD and affective temperaments. METHODS: The children diagnosed with ADHD were evaluated with a structured interview and the Turgay DSM-IV-Based Child and Adolescent Disruptive Behavioral Disorders Screening and Rating Scale (T-DSM-IV-S) was filled by parents. Then parents were evaluated by a structured clinical interview for DSM-IV (SCID-I), and those with no diagnosis of psychiatric disorder (in the past and at the time of the study) were included to the study. The Turkish version of the Temperament Evaluation of Memphis, Pisa, Paris and San Diego Auto-questionnaire was used to evaluate affective temperaments of parents. A control group of parents who has no children with ADHD was applied the same evaluation protocol. RESULTS: The study was conducted with 123 parents (66 mothers, 57 fathers) of 66 children with ADHD and 119 control parents (65 mothers, 54 fathers) of 71 children without ADHD. Affective temperament scores of parents of children with ADHD were significantly higher than those of the control group. When the scores of mothers and fathers were compared separately, mothers had higher scores in all temperaments except hyperthymic temperament, and fathers had higher scores in all temperaments except anxious temperament in the ADHD group. Additionally, the T-DSM-IV-S attention deficit and hyperactivity/impulsivity scores of children were moderately correlated with most of the affective temperaments scores of their parents. CONCLUSION: There is a relationship between ADHD and affective temperaments. Further studies are needed to understand the etiology, strength, and nature of this relationship.

Premenstrual syndrome health-related quality of life and psychiatric comorbidity in a clinical adolescent sample: a cross-sectional study.

OBJECTIVE: Adolescents who were admitted to the child and adolescent psychiatry clinic were compared with respect to the premenstrual symptom severity, psychiatric comorbidities and health related quality of life (HRQoL). METHODS: The research group was identified using the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version and Premenstrual Assessment Form. They completed the Pediatric Quality of Life Inventory (The PedsQL). RESULTS: There were 55 adolescents who were eligible for the study and 89% of participants were diagnosed with at least one psychiatric disorder. The most common psychiatric diagnoses among the diagnosed cases were anxiety and major depressive disorders. Of all of the cases, 78.2% were diagnosed with premenstrual syndrome (PMS) and among those cases, 46.5% had mild, 34.8% had moderate and 18.6% had severe PMS. Most common PMS symptom was anger/irritability. HRQoL in the group with PMS was significantly lower than that of the adolescents without PMS. Moreover, HRQoL of adolescents with PMS was found to deteriorate with the increasing severity of PMS. CONCLUSIONS: This study is of great importance since it demonstrated that PMS frequency is very high in a clinical adolescent population and negatively affects their HRQoL as similar to non-clinical adolescent population studies.

Relationship Between Sleep Problems and Quality of Life in Children With ADHD.

OBJECTIVE: The purpose of this study is to assess the sleep behaviors, sleep problems and frequency, and relationship with psychiatric comorbidities in ADHD Combined type and to evaluate the effect of sleep problems on quality of life. METHOD: Forty-six boys, aged 7 to 13 years, with ADHD-combined type and 31 healthy boys were included. ADHD children were never treated for sleep or psychiatric disorders. Intelligence quotient (IQ) test scores were minimum 80, body mass index were normal and did not have medical disorders. Parents completed Children's Sleep Habits Questionnaire, Conners' Parent Rating Scale and The Pediatric Quality of Life Inventory (PedsQL) and participants were asked about sleep behaviors and were administered PedsQL and Schedule for Affective Disorders and Schizophrenia. RESULTS: The frequency of sleep problems in ADHD is 84.8%, higher than the control group (p = .002). Evaluating PedsQL scores, the quality of life is worse in physical, psychosocial health, and total life quality (p < .05). ADHD group with sleep problems have more night wakings than control group with sleep problems (p = .02). The comorbidity do not increase sleep problems. The frequency of parasomnias is increased in group with learning disorders (p = .05). CONCLUSION: The results of this study, which controls for a number of possible confounders found in previous examinations of ADHD and sleep, support the results of a number of other studies that have found an increased overall prevalence of parent-reported sleep disturbances in children with ADHD compared with healthy control participants. As the ADHD group have more night wakings than the control group through the night, it is thought that night wakings that cause a partitioned sleep may be important signs seen in ADHD. That could be suggested by two hypotheses. First one is that, daytime sleepiness is more common in ADHD and those children present excessive hyperactivity during the day to stay awake and the second one is the improvement of ADHD signs when the drugs for sleepiness are used. Usage of standardized and valid diagnostic criteria, exclusion of adolescence, gender, socioeconomic level, primary sleep problems, medical disorders and low IQ level, making allowances for effect of comorbidities and having compared with the control group are the important methodological features of this study. The most important limitation of this study is small sample size that makes the findings less generalizable to other groups of children with ADHD, and another one is not having used objective measurements together with subjective measurements. In conclusion, these results underscore the importance of screening all children who have a symptom constellation suggestive of ADHD for sleep problems that may either play a causative role or exacerbate the clinical appearance of ADHD in a given child. Correct evaluation and treatment of sleep problems increase the life quality of family and child and also decrease the severity of ADHD symptoms.

The perceptions of pediatricians regarding their self-efficacy in child neglect and abuse.

Child abuse is one of the most severe forms of childhood trauma which has pervasive and long-lasting effects on children, their families, and the society. These effects, impairing the development of the victims, extend far beyond childhood into adolescence and adulthood. Pediatricians are the most common group of clinicians who encounter abused children immediately. Therefore, it is important for a pediatrician to be aware of the symptoms of abuse and neglect, and to feel sufficient about reporting in order to release and prevent the trauma. We aimed to assess awareness and self-efficacy about recognizing, diagnosing and reporting. Pediatricians completed the questionnaire created by the researchers. There were differences about pediatricians' perception of self-efficacy and approach to abuse. Pediatricians experience difficulties about the diagnosis of child abuse and neglect through the process from examination to reporting.

Mothers' alexithymia, depression and anxiety levels and their association with the quality of mother-infant relationship: a preliminary study.

OBJECTIVE: To evaluate the relationship between mothers and their developmentally normal infants in terms of maternal alexithymia, depression and anxiety, and marital satisfaction. METHODS: Fifty children between 18 and 48 months of age, and their mothers, were referred consecutively to the Infant Mental Health Unit of Ankara University School of Medicine, Department of Child and Adolescent Psychiatry. The sociodemographic features of the families and the depressive symptoms, anxiety, marital satisfaction and alexithymia levels of the mothers were assessed. The relationships between children in normal developmental stages and their mothers were evaluated and rated using a structured clinical procedure. RESULTS: There was a negative correlation between the mothers' alexithymia scores and the quality of the mother-infant relationship (p < 0.05). Mothers with high alexithymia showed higher depression and lower relationship qualities than mothers with low alexithymia, according to the correlation analysis. When depression and anxiety were controlled, high alexithymia levels were predictive of a low, impaired mother-infant relationship. CONCLUSION: Since alexithymia is a trait-like variable which has a negative correlation with impairment in a mother-infant relationship, it must be investigated in the assessment of mothers' interactions with their babies.