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Green energy transition directly contributes to Sustainable Development Goals 7 and 13, which are among the 17 development goals determined by the United Nations. However, what are the determinants of this green energy transition? Researchers' answers to this question will assist in formulating policy prescriptions that will enable concrete steps toward achieving these goals. This study investigates how the development of the banking sector, human rights, economic complexity, and economic freedom affect the green energy transition in China, which is the biggest emitter of greenhouse gases globally but is also one of the leading countries in renewable energy production. The study covers the years 1995-2022. Advanced time series analysis methods were employed, and robust results were reported. According to the findings, Economic Freedom, Human Rights, and Economic Complexity have increased the transition to green energy in China. No effect of banking sector development was found. The country should improve economic freedom and human rights and increase knowledge/innovation-based production to accelerate China's transition to green energy and contribute to environmental sustainability.
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Human Rights , Sustainable Development , China , Humans , Conservation of Natural Resources , United Nations , Economic Development , Renewable EnergyABSTRACT
Background/aim: Mental disorders pose a substantial public health challenge within the overall disease burden. This study aims to determine the factors associated with seeking psychological help among individuals experiencing depression according to gender differences in Türkiye. Methods: The study utilized microdata from Türkiye Health Survey conducted by the Turkish Statistical Institute in 2016, 2019, and 2022. Binary logistic regression analysis was employed to determine the factors associated with seeking psychological help. Results: The study's findings reveal that variables such as survey year, age, education level, employment status, general health status, disease status, depression status, day service status in the hospital, daily activity status, tobacco use status, and alcohol use status are associated with the status of receiving psychological help. Conclusion: Gender-specific analysis indicated variations in the significance and impact of these variables among individuals seeking psychological help. In the development of preventive strategies for mental health protection, special attention should be given to factors associated with the psychological help-seeking behavior of both women and men. Prioritizing and addressing these factors will contribute to more effective mental health interventions.
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CONTEXT: Osteopathic treatments regulate the neurovegetative system through joint mobilizations and manipulations, and myofascial and craniosacral techniques. Despite the growing body of research, the precise impact of osteopathic medicine on the autonomic nervous system (ANS) is not yet fully elucidated. As to Kuchera's techniques, the stimulation of the sympathetic trunk and prevertebral ganglia contributed to harmonization of the sympathetic activity. However, potential relationships between the harmonization of the sympathetic nervous system (SNS) and the hypothalamic-pituitary-adrenal (HPA) axis largely remain uncertain and warrant further exploration. OBJECTIVES: This study was designed to evaluate the effectiveness of the osteopathic sympathetic harmonization (OSH) on the SNS and the HPA axis in youth with major depressive disorder (MDD). METHODS: The study included 39 youths aged 15-21 years and diagnosed with MDD. The participants were randomly assigned into either the OSH or the placebo group. Stimulation was performed on the sympathetic truncus and prevertebral ganglia in the OSH group. The stimulation of the placebo group was performed with a lighter touch and a shorter duration in similar areas. Each participant completed the Beck Depression Inventory (BDI) and the State and Trait Anxiety Inventory (SAI and TAI) before the application. Blood pressure (BP) and pulse measurements were made, and saliva samples were taken before, immediately after, and 20â¯min after application. RESULTS: The baseline BDI (p=0.617) and TAI (p=0.322) scores were similar in both groups. Although the SAI scores decreased in both groups postintervention, no statistically significant difference was found between the two groups. Subjects who received OSH had a decrease in α-amylase level (p=0.028) and an increase in cortisol level (p=0.009) 20â¯min after the procedure. CONCLUSIONS: Following OSH application in depressed youth, SNS activity may decrease, whereas HPA axis activity may increase. Future studies may examine the therapeutic efficacy of repeated OSH applications in depressed individuals.
Subject(s)
Depressive Disorder, Major , Hypothalamo-Hypophyseal System , Manipulation, Osteopathic , Pituitary-Adrenal System , Humans , Depressive Disorder, Major/therapy , Depressive Disorder, Major/physiopathology , Adolescent , Hypothalamo-Hypophyseal System/metabolism , Hypothalamo-Hypophyseal System/physiopathology , Pituitary-Adrenal System/metabolism , Pituitary-Adrenal System/physiopathology , Male , Female , Double-Blind Method , Young Adult , Manipulation, Osteopathic/methods , Hydrocortisone/metabolism , Sympathetic Nervous System/physiopathology , Treatment OutcomeABSTRACT
BACKGROUND: Although common mental health problems have been widely studied with self-stigma, few studies have focused on the mediating effect of self-stigma in the relationship between mental health problems and help-seeking behaviours of refugee adolescents. Therefore, the purpose of the present study was to examine whether self-stigma mitigates the adverse effects of stress, anxiety, and depression symptoms on the help-seeking behaviours of Syrian adolescents living in Turkey. METHODS: The participants of this study included 488 Syrian refugee adolescents (boys, 63.73%; girls, 3627%) living in Turkey. Participants completed the Depression Anxiety Stress Scale and General Help-Seeking Scale and Self-Stigma of Seeking Psychology Help Scale. RESULTS: The findings revealed that stress (ß = 0.19, p < 0.01), anxiety (ß = 0.12, p < 0.05), and depression (ß = 0.17, p < 0.01) had significant and positive predictive effects on self-stigma, but not on help-seeking behaviours. Also, self-stigma (ß = -0.12, p < 0.01) had a significant negative predictive effect on help-seeking behaviours. With regard to the indirect effects, the findings showed that self-stigma fully mediated the associations between stress - help-seeking [effect = -0.05, 95% confidence interval (CI) -0.11 to -0.01], anxiety - help-seeking (effect = -0.04, 95% CI -0.09 to -0.01)], and depression - help-seeking (effect = -0.05, 95% CI -0.12 to -0.01). CONCLUSIONS: Our findings highlight the potential negative effects of self-stigma on the help-seeking behaviours of Syrian refugee adolescents, both directly and indirectly. These results can be used to develop and implement effective and efficient interventions to address the unmet mental health needs of refugee adolescents.
Subject(s)
Help-Seeking Behavior , Mental Disorders , Refugees , Male , Female , Humans , Adolescent , Mental Health , Refugees/psychology , Syria , Anxiety , Social Stigma , Patient Acceptance of Health Care/psychology , Mental Disorders/psychologyABSTRACT
OBJECTIVE: Neuropsychiatric assessment is essential part of child and adolescent psychiatry clinic practice, also provides important information about central nervous system dysfunctions. In studies conducted to date, it has been known that both the high frequency of psychiatric comorbidity in epileptic patients and that epilepsy comorbidity is quite common in neurodevelopmental disorders. In fact, considering the high comorbidity of epileptic abnormalities and psychiatric disorders, it has been very important to determine predictors for epileptic abnormalities in a clinical sample of child and adolescent psychiatry. In this retrospective study, we aim to determine possible predictive factors for epileptic abnormalities in a clinical sample of child and adolescent psychiatry according to Weschler Intelligence Scale for Children (WISC-R) results. METHODS: We identified patients who had two or more rotation errors in the block design subtest of WISC-R by retrospectively scanning the system records of 2609 cases who were applied WISC-R with different prediagnoses at Gazi University Child and Adolescent Psychiatry Outpatient Clinic between January 2013 and December 2020 (n=71). After the first step identification, we selected the ones who had a previous electroencephalography (EEG) recording available for our own re-review (n=60). RESULTS: We found 15% EEG abnormalities and ADHD is the most common diagnosis in both normal and abnormal EEG groups. Due to correlation analysis, there was a positive-mild correlation between presence of EEG abnormality and WISC-R performance (r=0.56) in intellectual disability (ID) group and a positive-strong correlation between presence of EEG abnormality and WISC-R performance-verbal scores (r=0.74) in ID group. CONCLUSION: This study has shown that many different abnormal EEG patterns can be found in patients who have rotation errors in the block design test of WISC-R, suggesting diagnoses of ID, and having notable performance-verbal subtests scores difference and rotation errors in the block design subtest of WISC-R should be predicitive factors for epileptic abnormalities.
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AIM: This study aimed to investigate the effectiveness of prenatal breast-feeding education provided to pregnant women who experience fear of breast-feeding in the COVID-19 pandemic period. METHODS: A prospective randomized controlled trial study was conducted with 128 pregnant women (64 in the experimental group and 64 in the control group) between November 2021 and February 2022. The data were collected via the Numeric Pain Rating Scale, the Breastfeeding Motivation Scale and the Iowa Infant Feeding Attitude Scale to assess fear, motivation and attitudes regarding breast-feeding. The pregnant women in the experimental group were provided with and education programme on 'safe breastfeeding in the COVID-19 pandemic'. The breast-feeding education included in standard care was given to the control group after pre-test data collection was completed. RESULTS: The significant differences in the mean Numeric Pain Rating Scale, Breastfeeding Motivation Scale and Iowa Infant Feeding Attitude Scale scores of the groups were in favour of the experimental group (P < 0.05). It was determined that in the first postnatal month, in the experimental group, the numbers of women who believed that their breast-feeding was not affected by COVID-19 and the numbers of infants solely breastmilk-fed were higher compared to the control group (P < 0.05). CONCLUSION: Prenatal breast-feeding education about safe breast-feeding in the COVID-19 pandemic period can reduce fears of breast-feeding and increase motivation and approving attitudes regarding breast-feeding.
Subject(s)
COVID-19 , Pregnant Women , Infant , Female , Pregnancy , Humans , Breast Feeding , Prenatal Care , Prospective Studies , Pandemics , COVID-19/epidemiology , FearABSTRACT
Purpose/aim of the study: The study aimed to highlight the possible role of ciliary neurotrophic factor (CNTF) in the pathophysiology of attention deficit hyperactivity disorder (ADHD) and determine whether CNTF can be used as a biomarker for ADHD.Materials and methods: Patients with a diagnosis of ADHD and neurotypical subjects aged 6-12 years were recruited prospectively. The study applied Conners' Teacher Rating Scale (CTRS) to determine the patients' ADHD predominance and severity. Serum CNTF levels were measured with an enzyme-linked immunosorbent assay (ELISA) kit.Results: A total of 43 ADHD patients and 33 healthy controls were included in the study. A significant difference was found between the serum CNTF levels of the ADHD patients (22.17 pg/ml) and the controls (22.80 pg/ml). Correlations between the CNTF levels and CTRS scores were not significant.Conclusions: The study identified an alteration of serum CNTF levels in ADHD patients and thus asserted a link between CNTF and ADHD pathophysiology; children with ADHD had significantly lower serum CNTF levels compared to the neurotypical controls. Further research is needed to understand the mechanisms of CNTF.
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Introduction: Attention deficit hyperactivity disorder (ADHD) have quite complicated etiology. The relationship between ADHD and immune and oxidative imbalances is discussed in current researches investigating the pathophysiology of ADHD. The aim of the study is to determine whether heat shock protein 70 (HSP70) has a potential role in pathophysiologic mechanisms of attention deficit hyperactivity disorder. Methods: This study included 41 children that were diagnosed with ADHD and 32 typically developing children. Conners' Teacher Rating Scale (CTRS) was used to evaluate ADHD presentation and severity. Additionally, an enzyme-linked immunosorbent assay (ELISA) kit was used to evaluate serum HSP70 level. Results: We have detected that the serum HSP70 levels of children with ADHD were lower than the typically developing group (p<0.01). No relationship was determined between HSP70 levels and either the severity of ADHD or predominantly ADHD presentations (p>0.05). Conclusion: With these findings, it can be proposed that HSP70 might have a crucial role in the etiological mechanisms of ADHD. Moreover, these changes in peripheral blood may have therapeutic and/or diagnostic value. However, more detailed prospective studies are needed to explain the link between ADHD and heat shock proteins.
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OBJECTIVE: This study aims to examine the effectiveness of a live online Mindfulness-Based Stress Reduction (MBSR) program in preventing distress, anxiety and childbirth fear in pregnant women diagnosed with COVID-19. MATERIAL AND METHODS: Designed as a randomized-controlled trial, this study was performed with the participation of pregnant women who were diagnosed with COVID-19. The sample comprised 84 pregnant women, including 42 in the experimental group and 42 in the control group. The online MBSR program composed of eight sessions and lasting four weeks was provided to the pregnant women in the experimental group, whereas such an initiative was not provided to the control group. The data were collected via the Revised Prenatal Distress Questionnaire (NuPDQ), the Beck Anxiety Inventory (BAI), and the Childbirth Attitudes Questionnaire (CAQ). RESULTS: After the MBSR program, the mean NuPDQ, BAI and CAQ scores of the pregnant women in the experimental group were significantly lower than the mean scores of those in the control group (p < 0.001). CONCLUSION: The online MBSR program may be utilized to reduce the distress, anxiety and childbirth fear levels of pregnant women diagnosed with COVID-19. By using the MBSR program, health professionals might improve the psychological well-being of pregnant women diagnosed with COVID-19.
Subject(s)
COVID-19 , Mindfulness , Anxiety/psychology , Depression/psychology , Fear , Female , Humans , Parturition/psychology , Pregnancy , Pregnant Women/psychology , Stress, Psychological/therapyABSTRACT
OBJECTIVE: Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder and its aetiology is not fully understood. This study aimed to determine whether the CCL5 and CCL11 influence the ADHD aetiology by comparing serum CCL5 and CCL11 levels of children with ADHD and typical development. METHODS: This study included 45 (27 males, mean age = 8.9 ± 1.7 years) treatment-naive patients diagnosed with ADHD and 35 (20 males, mean age = 8.8 ± 1.6 years) healthy controls. Participants ranged in age between 6-12 years and completed the Conners Teacher Rating Scale that assesses ADHD presentation and severity. CCL5 and CCL11 serum levels were also measured using enzyme-linked immunosorbent assay kits. RESULTS: Significantly higher serum CCL5 levels were found in children with ADHD compared to healthy controls (p < 0.001). No significant difference was found between the mean serum CC11 level of the patients and controls (p = 0.93). In addition, there was no significant correlation between the serum CCL5 and CCL11 levels and predominant presentations of ADHD and disease severity. CONCLUSION: This study suggests that there are higher levels of serum CCL5 in drug naive children with ADHD, this findings suggest that CCL5 might play a role in the pathophysiology of ADHD. Moreover, these changes in peripheral blood may have therapeutic value. In addition, these results help to understand the role of chemokines in elucidating the etiopathogenesis of ADHD. Our results can be considered as the first step in investigating the role of CCL5 in ADHD, and further research is needed to support these initial findings.
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PURPOSE: To determine the stress-coping methods and personality traits of the women who were exposed to violence. DESIGN AND METHODS: This cross-sectional study was conducted by using a web-based online survey with 1242 women in Turkey. FINDINGS: Women who were exposed to violence used mostly emotional strategies in coping with stress. The women's personality traits did not affect whether they were victims of the violence. PRACTICE IMPLICATIONS: It is necessary to take initiatives to encourage the use of effective methods in coping with stress. Other studies should be conducted to determine the personality traits of women exposed to violence.
Subject(s)
Adaptation, Psychological , Violence , Female , Humans , Cross-Sectional Studies , Surveys and Questionnaires , PersonalityABSTRACT
OBJECTIVES: The aim of this study to compare the clinic efficacy and effects of osmotic release oral system-methylphenidate and atomoxetine on executive function in children and adolescents with attention deficit hyperactivity disorder by a open-label, prospective, randomized controlled trial. METHODS: The study was performed by 95 cases between ages 6 and 12 years who were diagnosed as attention-deficit/hyperactivity disorder (ADHD) and also 40 control individuals. In this study, Conners' Teacher Rating Scale (CTRS) was used in order to evaluate the efficacy of the treatment. Executive functions were assessed by the performance-based neuropsychological tests and ecological behavioral rating scales. Stroop test, cancellation test, and serial digit learning test were applied to performance based neuropsychological tests. Behavior Rating Inventory of Executive Function tests (BRIEFs) were used as behavioral assessment scales. RESULTS: Among the ADHD groups, a reduction of over 40% in the CTRS subtest scores used to evaluate the efficacy of the treatment was considered to be an improvement, and no significant difference was found for both drugs. Both Osmotic Release Oral System-Methylphenidate Hydrochloride (OROS-MPH) and atomoxetine (ATX) significantly improved scores in neuropsychological tests. CONCLUSION: Atomoxetine and OROS-MPH treatments have shown similar efficacy in clinical recovery and improvement on executive functions. However, disturbances in executive functions observed in children with ADHD are persistent despite treatment, when compared with the control group.
Subject(s)
Attention Deficit Disorder with Hyperactivity , Central Nervous System Stimulants , Methylphenidate , Adolescent , Atomoxetine Hydrochloride/pharmacology , Attention Deficit Disorder with Hyperactivity/drug therapy , Attention Deficit Disorder with Hyperactivity/psychology , Central Nervous System Stimulants/pharmacology , Child , Executive Function , Humans , Methylphenidate/pharmacology , Prospective Studies , Treatment OutcomeABSTRACT
AIM: The aim of this study was to investigate psychosocial, demographic and obstetric factors that affect health practices in pregnancy. METHODS: This cross-sectional study was conducted with pregnant women selected by using random sampling in a public hospital in Turkey. The pregnant women (n = 383) completed the Health Practices Questionnaire in Pregnancy, the Center for Epidemiologic Studies Depression Scale, the Beck Anxiety Inventory and the Multidimensional Scale of Perceived Social Support. Multiple linear regression was used to examine predictors of participation in health practices. The variables were subjected to multiple linear regression analysis to estimate the effect of each independent variable (depression, anxiety, perceived social support, age, educational level, gestational week and parity) on the dependent variable (health practices). RESULTS: Depression and anxiety were not significantly related to gestational health practices. The multiple linear regression model showed that inadequate social support, low education level, early gestational week and high parity were significant predictors of nonengagement in favourable health practices during pregnancy. CONCLUSIONS: Pregnant women with inadequate social support and specific demographic and obstetric characteristics are less likely to participate in gestational health practices. This study suggests that more attention should be paid to these groups to improve the health practices of pregnant women.
Subject(s)
Anxiety , Social Support , Cross-Sectional Studies , Depression/psychology , Female , Humans , Parity , Pregnancy , Pregnant Women/psychologyABSTRACT
BACKGROUND: Copy number variants (CNVs) play a key role in the etiology of autism spectrum disorder (ASD). Therefore, recent guidelines recommend chromosomal microarrays (CMAs) as first-tier genetic tests. This study's first aim was to determine the clinical usefulness of CMAs in children diagnosed with ASD in a Turkish population. The second aim was to describe the CNVs and clinical phenotypes of children with ASD. METHODS AND RESULTS: This was a single-center retrospective cross-sectional study. Data were obtained from the medical records of children with ASD followed at Gazi University Hospital, (Ankara, Turkey). The sample consisted of 47 ASD cases (mean age: 60.34 ± 25.60 months; 82.9% boys). The diagnostic yield of the CMAs was 8.5%. Four pathogenic CNVs were identified: 9p24.3p24.2 deletion, 15q11-q13 duplication, 16p11.2 deletion, and 22q13.3 deletion. Also, four variants were found at 2q36.3, 10p11.21, 15q11.2, and Xp11.22, which were classified as variants of uncertain significance (VUS). CONCLUSIONS: The TRAP12 and PARD3 genes in CNVs classified as VUS may be worth investigating for autism. The initial identification of both clinical and biological markers can facilitate monitoring, early intervention, or prevention and advance our understanding of the neurobiology underlying ASD.
Subject(s)
Autism Spectrum Disorder/genetics , DNA Copy Number Variations , Genetic Predisposition to Disease , Sequence Deletion , Adaptor Proteins, Signal Transducing/genetics , Carrier Proteins/genetics , Cell Cycle Proteins/genetics , Child , Child, Preschool , Chromosome Duplication , Cross-Sectional Studies , Female , Humans , Male , Retrospective Studies , Turkey , Ubiquitin-Protein Ligases/genetics , White People/geneticsABSTRACT
This study aims to adapting the Family Health Climate Scale (FHC Scale) into Turkish and to conduct its validity and reliability analyses. The FHC Scale consists of two subscales, the Physical Activity Scale (FHC-PA) and the Nutrition Scale (FHC-NU). The validity and reliability analyzes of the scales were done separately. The sample included 789 participants (263 students, 263 mothers, 263 fathers). The sample was randomly allocated to two groups. Explanatory Factor Analysis (EFA) was performed on Sample I (132 students, 132 mothers, 132 fathers); and Confirmatory Factor Analysis (CFA) on sample II (131 students, 131 mothers, 131 fathers). As a result of the EFA it was determined that three factors FHC-PA Scale; and four factors FHC-NU Scale were included. The CFA result it was determined that scale models had good fit values. The FHC-Scale could be used as a reliable and valid measurement tool in Turkey.
Subject(s)
Family Health , Health Behavior , Humans , Psychometrics , Reproducibility of Results , Surveys and Questionnaires , TurkeyABSTRACT
Sensory differences are common in Autism Spectrum Disorder (ASD). While there is no well-accepted method to measure sensory differences objectively, there is accumulating evidence from recent years concerning sensory perception, including data concerning temporal discrimination thresholds of individuals with ASD as measured by different measures. The somatosensory temporal discrimination (STD) test measures the threshold at which an individual can temporally discriminate multiple tactile stimuli delivered in succession. We aimed to investigate tactile perception in ASD and hypothesized that children with ASD have impaired STD related to their subjective sensory symptoms and daily difficulties. Thirty adolescents with ASD and 30 typically developed subjects were recruited. The Childhood Autism Rating Scale, Strengths and Difficulties Questionnaire, and Adolescent/Adult Sensory Profile were implemented before STD evaluation. Average somatosensory detection (1.48 ± 0.42) and discrimination thresholds (112.70 ± 43.45) of the children with ASD were significantly higher (P = 0.010, P = 0.001, respectively) than those of the controls (1.18 ± 0.42, 79.95 ± 31.60, respectively). Sensory seeking scores of the ASD group (40.8 ± 7.60) were significantly lower (P = 0.024) than those of the control group (45.83 ± 9.17). However, the psychophsycal thresholds did not have any statistically significant relationships with subjective sensory symptoms or daily difficulties. This study demonstrates impaired sensory processing in ASD evaluated by STD and its lack of relationship with subjective sensory symptoms and daily difficulties. This psychophysical evidence of increased STD thresholds and decreased sensory seeking profile supports the disturbances in the regulation of sensory processing in ASD. LAY SUMMARY: Sensory differences are common in autism; however, there is no well-accepted method to measure them objectively. This study aims to investigate somatosensory differences and their relation with sensory and emotional/behavioral difficulties of children with autism. We show that autistic children have higher tactile discrimination thresholds and fewer sensory seeking behaviors. This supports the presence of impairments in sensory processing in autism. Measuring the sensory differences may help understanding clinical symptoms and neurobiological underpinings of autism. Autism Res 2021, 14: 656-667. © 2021 International Society for Autism Research and Wiley Periodicals LLC.
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Autism Spectrum Disorder , Autistic Disorder , Touch Perception , Adolescent , Adult , Autism Spectrum Disorder/complications , Child , Humans , TouchABSTRACT
PURPOSE: In this study, it was aimed to determine the effect of deep tissue massage (DTM) applied by midwife on pain and comfort after cesarean section. MATERIAL AND METHODS: This study was designed as a randomized controlled trial conducted with experimental and control groups. The data were collected using a personal information form, visual analogue scale (VAS), the Postpartum Comfort Questionnaire (PPCQ). DTM was applied to participants in the experimental group twice (at the 10th and 22nd h) after cesarean. No applications were performed in the control group. RESULTS: According to the measurements, the mean VAS score of the mother in the experimental group was lower than that of the control group (17.51 ± 6.15, 56.16 ± 9.53; respectively) and PPCQ total and sub-dimension mean scores were found to be statistically significant in favor of the experimental group (p < 0.001). CONCLUSIONS: It was indicated that DTM application decreased the levels of pain and increased the comfort levels of the women who had cesarean sections.
Subject(s)
Cesarean Section , Massage , Cesarean Section/adverse effects , Female , Humans , Pain , Pain Management , Pain Measurement , PregnancyABSTRACT
In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest any other neurological and genetic disorders. To investigate IEM, data of the hospital records of 247 patients who were referred from pediatric psychiatric to pediatric metabolism outpatient clinics due to further evaluation of autism spectrum disorders (ASD) were examined. Among them, 237 patients were evaluated for IEM leading to ASDs. Organic acidemias, phenylketonuria, tetrahydrobiopterin and neutrotransmitter disorders, biotinidase deficiency, Smith-Lemni-Opitz syndrome, disorders of cerebral creatine metabolism, urea cycle defects, homocystinuria, purine-pyrimidine metabolism disorders, mitochondrial disorders, cerebrotendinous xantomatosis, mucopolysaccaridosis, and glucose 6 phosphate dehydrogenase deficiency were screened with complete blood counts, complete biochemical analyses, homocysteine levels, an arterial blood gase, and metabolic investigations. Six patients were diagnosed as follows: one with phenylketonuria (PKU), one with cerebral creatine deficiency, one with hypobetalipoproteinemia, one with glycogen storage disease type IX-a, one with dihydropyrimidine dehydrogenase deficiency, and one with succinic semialdehyde dehydrogenase deficiency (SSADHD). Forty-six patients screened for IEM were from consanguineous families, among them, one was diagnosed with FKU and the other was with SSADHD. It would not be expected to find PKU in a 5-year-old patient as a result of newborn screening, but she could not been screened due to being a refugee. The diagnosed diseases were rare presentations of the diseases and furthermore, the diagnosis of hypobetalipoproteinemia and glycogen storage disease type IX-a were surprising with the only presentation of ASDs. LAY SUMMARY: It is well-known that some types of inborn errors of metabolism (IEM) may present with that of autism spectrum disorders (ASDs). This study suggests that in countries where consanguinity marriages are common such as Turkey and refugees whose escaped from neonatal screening are present, patients with ASD should be screened for IEMs. The results can surprise the physicians with a very rare cause of autism that has never been thought. Autism Res 2021, 14: 887-896. © 2021 International Society for Autism Research, Wiley Periodicals LLC.
Subject(s)
Amino Acid Metabolism, Inborn Errors , Autism Spectrum Disorder , Autistic Disorder , Metabolism, Inborn Errors , Child , Child, Preschool , Humans , Infant, Newborn , Metabolism, Inborn Errors/diagnosis , TurkeyABSTRACT
Genetic factors play a major role in the etiopathogenesis of attention-deficit/hyperactivity disorder (ADHD). In this study, we aimed to investigate the relationship between the CDH13 (rs6565113, rs11150556) and LPHN3 (rs6551665, rs6858066, rs1947274, rs2345039) gene polymorphisms and ADHD. We also sought to examine possible relationships between these polymorphisms and the clinical course and treatment response in ADHD. A total of 120 patients (79% boys), aged 6 to 18 years, newly diagnosed (medication-naïve) with ADHD according to the DSM-5 and a group of 126 controls (74% girls) were enrolled in the study. We examined the association between the aforementioned polymorphisms and ADHD. Univariate and multivariate logistic regression analysis were used to evaluate factors influencing the treatment response of ADHD. A significant difference was found between ADHD and control groups in terms of genotype distribution of the LPHN3 rs6551665 and rs1947274 polymorphisms. The results also showed that having the GG genotype of rs6551665 and CC genotype of rs1947274 of the LPHN3 gene was associated with risk for ADHD, and this relationship was more prominent in male participants. In the multivariate logistic regression model established with variables shown to have a significant relationship with treatment response, the presence of the GG genotype of the LPHN3 rs6551665 polymorphism and high severity of ADHD assessed by CGI-S were associated with poor response to treatment. This study is the first study to investigate the relationship between ADHD and these polymorphisms among Turkish adolescents. Our results imply that the LPHN3 rs6551665 and rs1947274 polymorphisms have a significant effect on ADHD in a Turkish population, and support previous observations that the presence of the GG genotype of the LPHN3 rs6551665 polymorphism may be associated with poor response to treatment in ADHD.