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1.
Children (Basel) ; 11(5)2024 May 05.
Artículo en Inglés | MEDLINE | ID: mdl-38790546

RESUMEN

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.

2.
Asian J Psychiatr ; 91: 103837, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38070321

RESUMEN

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.


Asunto(s)
Lenguaje , Psicopatología , Humanos , Preescolar , Reproducibilidad de los Resultados , Escolaridad , Instituciones Académicas , Encuestas y Cuestionarios , Psicometría
3.
Int J Psychiatry Clin Pract ; 26(1): 50-57, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33019830

RESUMEN

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.


Asunto(s)
Madres Adolescentes , Madres , Adolescente , Adulto , Preescolar , Emociones , Femenino , Humanos , Lactante , Relaciones Madre-Hijo/psicología , Madres/psicología , Embarazo , Estudios Retrospectivos
4.
Int J Neurosci ; 132(11): 1072-1079, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33287601

RESUMEN

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with large genetic background, but identification of pathogenic variants has proceeded slowly because hundreds of loci are involved in this complex disorder. CC2D1A gene firstly associated with the intellectual disability (ID) in a family with a large deletion. We aimed to contribute to the literature by sequencing this gene and by this way we report novel CC2D1A variations in patients with ASD. METHODS: Forty families who have a child with a diagnosis of ASD were enrolled to the study. DNA samples were obtained from each family member. Bidirectional CC2D1A gene sequencing was performed with CEQ Cycle Sequencing Kit, and the products were analyzed on the Beckman CEQ 8000. All of the genetic analysis was conducted in Erciyes University Genome and Stem Cell Center (GENKOK). RESULTS: According to the sequencing results, we defined new alterations in this gene with two SNPs in exon 15 and 19 (rs747172992 and rs1364074600) in our patients. We found a pathogenic variant in one patient. This variant was located in the acceptor region. Six of the variants were missense mutations. Additionally, six different benign variants were detected in 30 patients; however, they were not associated with ASD. Two patients carried multiple rare variants. CONCLUSION: In vitro and in vivo functional analysis with this gene will help to understand its contribution to ASD pathogenesis. Future studies may help to elucidate the underlying biological mechanisms of these variants leading to the autism phenotype.


Asunto(s)
Trastorno del Espectro Autista , Discapacidad Intelectual , Humanos , Trastorno del Espectro Autista/genética , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Mutación Missense , Proteínas de Unión al ADN
5.
Appetite ; 168: 105734, 2022 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-34624432

RESUMEN

Adolescent obesity is a growing global health problem. Studies have demonstrated that exposure to food cues plays a role in both the development and the persistence of obesity. Understanding how visual attention changes dynamically in response to food cues may explain how they contribute to obesity. The primary aims were to evaluate attentional bias for food cues and conduct a time-course analysis of obese adolescents' food-cue processing. We also investigated the roles of inhibition, cognitive flexibility, and eating styles in their visual attention to food stimuli. A total of 60 age- and gender-matched 12-16-year-olds (n = 30, obese group; n = 30, control group; M = 13.9 years, SD = 1.26) were included in this study's sample. The participants viewed a series of high-calorie and low-calorie food images along with nonfood images in the free exploration paradigm during eye-tracking. Time-course analysis of the proportion of fixations on images of food and high-calorie foods determined that the attentional processing of the two groups differed, especially in later stages. The obese group had higher Stroop Interference and Trail Making Test-B scores than the control group, but these executive functions' scores did not affect their proportions of fixations on food and high-calorie food images over time. Higher Perceptual Reasoning Index scores led to a decrease in the proportions of fixations on high-calorie food images over time in the obese group, and this was particularly noticeable after about 4000 ms. This study found that time-course analysis of visual attention to food cues allows us to understand how it changes dynamically over larger time intervals. Future studies should provide knowledge about maintained attention for food cues and their relationship with top-down factors in obese adolescents.


Asunto(s)
Señales (Psicología) , Obesidad Infantil , Adolescente , Ingestión de Energía , Tecnología de Seguimiento Ocular , Alimentos , Humanos
6.
Behav Brain Res ; 410: 113350, 2021 07 23.
Artículo en Inglés | MEDLINE | ID: mdl-33971247

RESUMEN

OBJECTIVE: In the current study, it was aimed to investigate the relationship between BDNF gene expression and childhood suicide attempt, childhood traumatic experiences, and problem-solving skills in children and adolescents. METHODS: The suicide group consisted of 100 children and adolescents aged 11-18 years who were referred to our outpatient department due to suicide attempt. For further comparisons, 100 children and adolescents who have no any psychiatric diagnosis were referred to our same outpatient department were selected. A sociodemographic data form, the Schedule for Affective Disorders and Schizophrenia for School-Age Children- Present and Lifetime version (K-SADS-PL), the Suicide Intent Scale (SIS), Problem Solving Inventory (PSI), and the Childhood Trauma Questionnaire (CTQ) were used for both groups. Total RNA was isolated from whole blood samples and BDNF gene expression levels were measured using quantitative real time-polymerase chain reaction (QRT-PCR). RESULTS: The total and subscale scores of the PSI and CTQ were found to be significantly higher in the suicide group than in the control group. There was no significant difference between the groups in terms of BDNF gene expression levels. However, gene expression of BDNF was found significantly increased in patients who have any psychiatric disorder compared with the others. CONCLUSION: Our results indicate that BDNF gene expression could be more associated with psychiatric disorders rather than suicide attempt in children and adolescents.


Asunto(s)
Conducta del Adolescente , Experiencias Adversas de la Infancia , Factor Neurotrófico Derivado del Encéfalo/genética , Conducta Infantil , Expresión Génica/genética , Trastornos Mentales/genética , Solución de Problemas , Intento de Suicidio , Adolescente , Conducta del Adolescente/fisiología , Niño , Conducta Infantil/fisiología , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Solución de Problemas/fisiología , Trauma Psicológico/genética , Índice de Severidad de la Enfermedad
7.
Res Dev Disabil ; 112: 103922, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33690111

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista , Adulto , Síntomas Afectivos , Padre , Humanos , Masculino , Relaciones Padres-Hijo , Padres
8.
J Mol Neurosci ; 71(10): 2173-2178, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33245486

RESUMEN

The aims of this study are to compare serum ubiquinone levels in children with attention deficit hyperactivity disorder (ADHD) with healthy controls and to investigate the correlation between ubiquinone levels of children with ADHD and their ADHD symptoms. Twenty-seven children who are 6-12 years old age with attention deficit hyperactivity disorder having clinically normal intelligence and 23 children with clinically normal intelligence and no psychiatric disorder of similar age and sex who referred to Ankara University School of Medicine Department of Child and Adolescent Psychiatry were included in this study. All children were diagnosed by same researcher using the Semi-Structured Clinical Interview for DSM-IV Scale for Affective Disorders and Schizophrenia Interview for School Children-Now and for the Life-Long Version (K-SADS-PL). Parents and teachers of the children completed the Conners Parent Rating Scale Revised Long Form (CPRS-LF) and Conners Teacher Rating Scale Revised Long Form (CTRS-LF). There were no statistically significant differences regarding the age, gender, and sociodemographic data of the groups. Serum ubiquinone levels of the ADHD group were significantly lower than the control group. We did not find any correlation between ubiquinone levels and clinical values. Since ubiquinone levels are lower in children with ADHD compared with controls, we suggest that decreased antioxidant levels may play a role in ADHD pathogenesis by disrupting oxidative balance.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/sangre , Ubiquinona/sangre , Trastorno por Déficit de Atención con Hiperactividad/metabolismo , Trastorno por Déficit de Atención con Hiperactividad/patología , Biomarcadores/sangre , Niño , Femenino , Humanos , Masculino , Estrés Oxidativo
9.
Sci Rep ; 10(1): 9011, 2020 06 09.
Artículo en Inglés | MEDLINE | ID: mdl-32514154

RESUMEN

Autism spectrum disorder (ASD) is a group of developmental pathologies that impair social communication and cause repetitive behaviors. The suggested roles of noncoding RNAs in pathology led us to perform a comparative analysis of the microRNAs expressed in the serum of human ASD patients. The analysis of a cohort of 45 children with ASD revealed that six microRNAs (miR-19a-3p, miR-361-5p, miR-3613-3p, miR-150-5p, miR-126-3p, and miR-499a-5p) were expressed at low to very low levels compared to those in healthy controls. A similar but less pronounced decrease was registered in the clinically unaffected parents of the sick children and in their siblings but never in any genetically unrelated control. Results consistent with these observations were obtained in the blood, hypothalamus and sperm of two of the established mouse models of ASD: valproic acid-treated animals and Cc2d1a+/- heterozygotes. In both instances, the same characteristic miRNA profile was evidenced in the affected individuals and inherited together with disease symptoms in the progeny of crosses with healthy animals. The consistent association of these genetic regulatory changes with the disease provides a starting point for evaluating the changes in the activity of the target genes and, thus, the underlying mechanism(s). From the applied societal and medical perspectives, once properly confirmed in large cohorts, these observations provide tools for the very early identification of affected children and progenitors.


Asunto(s)
Trastorno del Espectro Autista/sangre , Perfilación de la Expresión Génica , MicroARNs/sangre , Adolescente , Adulto , Animales , Ansiedad/genética , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/genética , Trastorno Autístico/sangre , Trastorno Autístico/inducido químicamente , Trastorno Autístico/genética , Niño , Preescolar , Depresión/genética , Modelos Animales de Enfermedad , Diagnóstico Precoz , Conducta Exploratoria , Femenino , Humanos , Hipotálamo/química , Lactante , Masculino , Ratones , Ratones Endogámicos BALB C , Ratones Mutantes Neurológicos , MicroARNs/análisis , MicroARNs/genética , Padres , Proteínas Represoras/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Hermanos , Conducta Social , Espermatozoides/química , Ácido Valproico/toxicidad , Adulto Joven
10.
J Mol Neurosci ; 67(1): 89-96, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30519864

RESUMEN

Autism spectrum disorder (ASD) is characterized by repetitive stereotypic behaviors, restricted interests, social withdrawal, and communication deficits. Aggression and insensitivity to pain are largely unexplained in these cases. We analyzed nine mRNA expressions of the candidate genes related to aggression and insensitivity to pain in the peripheral blood of patients with ASD. Whole blood samples were obtained from 40 autistic patients (33 boys, 7 girls) and 50 age- and sex-matched controls (37 boys and 13 girls) to isolate RNA. Gene expression was assessed by quantitative Real-Time PCR (qRT-PCR) in the Erciyes University Genome and Stem Cell Center (GENKOK). All of the gene expressions except CRHR1 and SLC6A4 were found to be statistically different between the ASD patients and controls. Gene expression also differed according to gender. Alterations in the mRNA expression patterns of the HTR1E, OPRL1, OPRM1, TACR1, PRKG1, SCN9A and DRD4 genes provide further evidence for a relevant effect of the respective candidate genes on the pathophysiology of ASD. Future studies may determine the sensitivity of these candidate markers in larger samples including further neuropsychiatric diagnosis.


Asunto(s)
Trastorno del Espectro Autista/genética , Canal de Sodio Activado por Voltaje NAV1.7/genética , ARN Mensajero/sangre , Receptor de Serotonina 5-HT1A/genética , Receptores de Dopamina D4/genética , Receptores Opioides/genética , Agresión , Trastorno del Espectro Autista/sangre , Trastorno del Espectro Autista/fisiopatología , Biomarcadores/sangre , Preescolar , Proteína Quinasa Dependiente de GMP Cíclico Tipo I/genética , Proteína Quinasa Dependiente de GMP Cíclico Tipo I/metabolismo , Femenino , Humanos , Masculino , Canal de Sodio Activado por Voltaje NAV1.7/metabolismo , Percepción del Dolor , ARN Mensajero/genética , ARN Mensajero/metabolismo , Receptor de Serotonina 5-HT1A/metabolismo , Receptores de Dopamina D4/metabolismo , Receptores Opioides/metabolismo
11.
Mol Biol Rep ; 45(4): 541-546, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29777458

RESUMEN

Although there are a large number of sequence variants of different genes and copy number variations at various loci identified in autistic disorder (AD) patients, the pathogenesis of AD has not been elucidated completely. Recently, in AD patients, a large number of expression array and transcriptome studies have shown an increase in the expression of genes especially related to innate immune response. Antimicrobial effects of vitamin D and VDR are exerted through Toll-Like-Receptors (TLR) which have an important role in the innate immune response, are expressed by antigen presenting cells and recognize foreign microorganisms. In this study, age and gender matched 30 patients diagnosed with AD and 30 healthy controls were included in the study. Comparatively whole blood VDR gene expression and rs11568820 and rs4516035 SNP profile of the promoter region of the VDR gene were investigated by real time PCR. Whole blood VDR gene expression was significantly higher in the AD group compared to control subjects (p < 0.0001). There were no significant differences among allele and genotype distribution of rs11568820 and rs4516035 polymorphisms between AD patients and controls. The increase of VDR gene expression in patients with AD may be in accordance with an increase in the innate immune response in patients with AD. Furthermore, this study will stimulate new studies in order to clarify the relationship among AD, vitamin D, VDR, and innate immunity.


Asunto(s)
Trastorno del Espectro Autista/genética , Receptores de Calcitriol/genética , Estudios de Casos y Controles , Niño , Variaciones en el Número de Copia de ADN , Femenino , Expresión Génica , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Receptores de Calcitriol/metabolismo , Transcriptoma , Vitamina D/genética , Vitamina D/metabolismo
13.
Brain Dev ; 39(2): 154-160, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27666468

RESUMEN

OBJECTIVE: This study was conducted to determine the prevalence rate of restless legs syndrome (RLS) and associated factors in adolescents aged 13-16years in the provincial center of Kayseri. MATERIALS AND METHODS: The study sample included 5720 adolescents who were selected from among 74,421 grade 7-10 students aged 13-16years in the provincial center of Kayseri. Overall, datas from 4792 subjects were included into analysis. Data were collected by using a self reported questionnaire and the Epworth Sleepiness Scale (ESS). The prevalence rate of RLS was determined by questionnaire datas and phone interviews. The effects of age, gender, economical status and body weight on RLS prevalence rate were analyzed. Mean ESS score was calculated. The effect of RLS on academic success, as measured by grade point average, was also assessed. The subjects were stratified as underweight, normal, overweight and obese according to the body mass index and the RLS prevalence rate was compared among groups. RESULTS: The RLS prevalence rate was determined to be 2.9% among adolescents aged 13-16years in the study group. It was found that gender and economical status had no significant effect on RLS prevalence. Mean age at symptom onset was 11.4years of age. There was a positive family history in 11.3% of subjects. Mean body mass index (BMI) was found to be significantly higher in subjects with RLS (21.5±3.8 vs. 20.5±3.2). Academic success (72.0±11.2 vs. 77.0±12.0) was found to be poorer and daytime sleepiness level, as measured by ESS (11.4±3.9 vs. 6.3±4.0), was found to be higher in subjects with RLS. CONCLUSION: The RLS prevalence rate was 2.9% in the study sample while gender and economical status had no significant effect on prevalence rate. The RLS, which results in decreased sleep quality and academic success, is an important disorder with a considerable prevalence in the population.


Asunto(s)
Síndrome de las Piernas Inquietas/epidemiología , Logro , Adolescente , Índice de Masa Corporal , Familia , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Prevalencia , Autoinforme , Factores Sexuales , Sueño , Factores Socioeconómicos , Turquía/epidemiología
14.
Brain Imaging Behav ; 11(6): 1561-1570, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27738997

RESUMEN

It is known that patients with Attention Deficit and Hyperactivity disorder (ADHD) and Conduct disorder (CD) commonly shows greater symptom severity than those with ADHD alone and worse outcomes. This study researches whether Default mode network (DMN) is altered in adolescents with ADHD + CD, relative to ADHD alone and controls or not. Ten medication-naïve boys with ADHD + CD, ten medication-naïve boys with ADHD and 10-age-matched typically developing (TD) controls underwent functional magnetic resonance imaging (fMRI) scans in the resting state and neuropsychological tasks such as the Wisconsin Card Sorting Test (WCST), Stroop Test TBAG Form (STP), Auditory Verbal learning Test (AVLT), Visual Auditory Digit Span B (VADS B) were applied to all the subjects included. fMRI scans can be used only nine patients in each groups. The findings revealed group differences between cingulate cortex and primary mortor cortex; cingulate cortex and somatosensory association cortex; angular gyrus (AG) and dorsal posterior cingulate cortex, in these networks increased activity was observed in participants with ADHD + CD compared with the ADHD. We found that lower resting state (rs)-activity was observed between left AG and dorsal posterior cingulate cortex, whereas higher rs-activity connectivity were detected between right AG and somatosensory association cortex in ADHD relative to the ones with ADHD + CD. In neuropsyhcological tasks, ADHD + CD group showed poor performance in WISC-R, WCST, Stroop, AVLT tasks compared to TDs. The ADHD + CD group displayed rs-functional abnormalities in DMN. Our results suggest that abnormalities in the intrinsic activity of resting state networks may contribute to the etiology of CD and poor prognosis of ADHD + CD.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Encéfalo/fisiopatología , Trastorno de la Conducta/complicaciones , Trastorno de la Conducta/fisiopatología , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Mapeo Encefálico , Niño , Trastorno de la Conducta/diagnóstico por imagen , Estudios Transversales , Humanos , Imagen por Resonancia Magnética , Masculino , Vías Nerviosas/diagnóstico por imagen , Vías Nerviosas/fisiopatología , Pruebas Neuropsicológicas , Descanso
15.
Metab Brain Dis ; 31(3): 613-9, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-26782176

RESUMEN

Classical autism belongs to a group of heterogeneous disorders known as autism spectrum disorders (ASD). Autism is defined as a neurodevelopmental disorder, characterized by repetitive stereotypic behaviors or restricted interests, social withdrawal, and communication deficits. Numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism but the etiology of this disorder is unknown in many cases. CC2D1A gene has been linked to mental retardation (MR) in a family with a large deletion before. Intellectual disability (ID) is a common feature of autistic cases. Therefore we aimed to investigate the expressions of CC2D1A and HTR1A genes with the diagnosis of autism in Turkey. Forty-four autistic patients (35 boys, 9 girls) and 27 controls were enrolled and obtained whole blood samples to isolate RNA samples from each participant. CC2D1A and HTR1A gene expressions were assessed by quantitative Real-Time PCR (qRT-PCR) in Genome and Stem Cell Center, Erciyes University. Both expressions of CC2D1A and HTR1A genes studied on ASD cases and controls were significantly different (p < 0.001). The expression of HTR1A was undetectable in the ASD samples. Comparison of ID and CC2D1A gene expression was also found statistically significant (p = 0.028). CC2D1A gene expression may be used as a candidate gene for ASD cases with ID. Further studies are needed to investigate the potential roles of these CC2D1A and HTR1A genes in their related pathways in ASD.


Asunto(s)
Trastorno del Espectro Autista/genética , Proteínas de Unión al ADN/genética , Receptor de Serotonina 5-HT1A/genética , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Expresión Génica , Estudios de Asociación Genética , Humanos , Masculino
16.
J Child Neurol ; 31(7): 837-42, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-26759448

RESUMEN

AIM: The aims of this study were to investigate comorbid psychiatric disorders and to identify anxiety and depression levels and quality of life in children and adolescents with migraine; and to assess their relationship with migraine. METHOD: 35 patients aged 9-16 years were followed in our neurology clinic and their parents were included into the study. 35 age- and sex-matched patients were employed as the control group. In the subjects included, psychiatric disorders were assessed by using the Schedule for Affective Disorders and Schizophrenia for School Age Children-Present and Lifetime Version. All children and adolescents were assessed by using the Children's Depression Inventory, the State-Trait Anxiety Inventory and the Pediatric Quality of Life Inventory. In addition, the Pediatric Migraine Disability Assessment Tool and visual analog scale were used to identify the degree of disability and pain severity in patients with migraine. FINDINGS: In the psychiatric assessment of children and adolescents with migraine, it was found that a psychiatric diagnosis was made in 40% of patients; and depression scale scores were significantly higher than those of controls. Quality of life was found to be poorer in patients with migraine compared to controls. It was found that quality of life was negatively correlated with pain severity and degree of disability; while it was positively correlated with depression scores. DISCUSSION: In children and adolescents with migraine, treatment of psychiatric disorders in addition to migraine therapy can facilitate migraine management and may decrease the need for prophylactic therapy.


Asunto(s)
Trastornos Migrañosos/psicología , Calidad de Vida , Adolescente , Ansiedad/epidemiología , Niño , Comorbilidad , Estudios Transversales , Depresión/epidemiología , Evaluación de la Discapacidad , Femenino , Humanos , Entrevista Psicológica , Masculino , Trastornos Mentales/complicaciones , Trastornos Mentales/epidemiología , Trastornos Migrañosos/complicaciones , Trastornos Migrañosos/epidemiología , Dolor/epidemiología , Dolor/psicología , Escalas de Valoración Psiquiátrica , Psicopatología
17.
J Child Neurol ; 31(5): 629-35, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26450281

RESUMEN

The aim of this study was to investigate the relationship between autism spectrum disorders development and exposure to mono-(2-ethylhexyl)-phthalate (MEHP), di-(2-ethylhexyl)-phthalate (DEHP), and bisphenol A (BPA), 1 of the endocrine disruptors, among phthalates. The study included 48 children with autism spectrum disorder (27 boys, 21 girls) and 41 healthy subjects (24 boys, 17 girls) as controls. Serum MEHP, DEHP, and BPA levels were measured by using high-performance liquid chromatography. Children with autism spectrum disorder had significantly increased serum MEHP, DEHP, and BPA concentrations (0.47 ± 0.14 µg/ml, 2.70 ± 0.90 µg/ml, 1.25 ± 0.30 ng/ml) compared to healthy control subjects (0.29 ± 0.05 µg/ml, 1.62 ± 0.56 µg/ml, 0.88 ± 0.18 ng/ml) respectively (P = .000). The fact that higher serum MEHP, DEHP, and BPA were found levels in the autism spectrum disorder group compared to healthy controls suggests that endocrine disruptors may have a role in the pathogenesis of autism spectrum disorders.


Asunto(s)
Trastorno del Espectro Autista/sangre , Trastorno del Espectro Autista/complicaciones , Compuestos de Bencidrilo/sangre , Dietilhexil Ftalato/análogos & derivados , Dietilhexil Ftalato/sangre , Fenoles/sangre , Niño , Preescolar , Cromatografía Líquida de Alta Presión , Femenino , Humanos , Masculino
18.
Noro Psikiyatr Ars ; 53(4): 291-295, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28360801

RESUMEN

INTRODUCTION: Here we aimed to determine the relationship between oxytocin levels and impulsivity, which is an important aspect at Attention Deficit Hyperactivity Disorder (ADHD) clinics. METHODS: The study population comprised 40 ADHD patients diagnosed based on the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version, without other psychiatric disorders and chronic diseases aged between 8 and 15 years. The control group comprised 40 healthy, age-matched, male children and adolescents who voluntarily participated in the study. Patients and controls filled the Barratt impulsivity scale-11 (BIS-11). Ten cubic centimeters of blood was collected at 8 am for determining serum oxytocin levels. ELISA kits were used to measure serum oxytocin levels in a biochemistry laboratory. The obtained data were evaluated using appropriate statistical methods. RESULTS: In this study, compared with the control group, the impulsivity scores were significantly higher and serum oxytocin levels were lower in the ADHD group (52.5±18.1 and 37.62±9.0, respectively, p<0.001). Serum oxytocin levels showed a negative correlation with impulsivity and attention subscale scores of BIS-11 in the ADHD group. CONCLUSION: ADHD and impulsivity, which comprise an aspect of ADHD, may be associated with oxytocin. Serum oxytocin levels may contribute to inattention subtypes of impulsivity observed in ADHD.

19.
J Child Adolesc Psychopharmacol ; 25(6): 494-500, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26218871

RESUMEN

OBJECTIVE: The aim of this study was to evaluate and compare the effects of atomoxetine (ATX) and osmotic release oral system-methylphenidate (OROS-MPH) therapies on executive functions, activities, treatment response time, and adverse effects based on discernible clinical effects in children with combined type attention-deficit/hyperactivity disorder (ADHD). METHODS: The study sample consisted of 43 children 7-12 years of age, who presented to the outpatient clinic with inattention, hyperactivity, and impulsivity for the first time, and were diagnosed as having combined type ADHD according to Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV) criteria but had not previously used any medication for ADHD. The Wisconsin Card Sorting Test (WCST), Stroop Test TBAG Form (STP), and Visual Auditory Digit Span B (VADS B) were applied to all the patients included. Neuropsychological tests were repeated in 33 patients with good clinical recovery based on the Clinical Global Impressions-Improvement (CGI-I) scale (CGI-I ≤2) at the week in which clinical recovery was observed. The time limit for treatment response was set as 20 weeks. RESULTS: It was found that there was significantly increased performance in executive functions with ATX and OROS-MPH in both groups. It was seen that although significantly increased performance was achieved in both perseveration and conceptual learning and reasoning domains by both agents, there was increased performance in more domains by the OROS-MPH group in WSCT. Mean doses were 1.31±0.37 mg/kg/day in the ATX group and 0.90±0.29 mg/kg/day in the OROS-MPH group. Comparable effectiveness (76.19% for ATX vs. 77.27% for OROS-MPH) and adverse effects (57.14% for ATX vs. 54.54% for OROS-MPH) were detected in both groups, whereas there was a significant difference in clinical response times between the groups (13 weeks for ATX vs. 7 weeks for OROS-MPH, p <0.001). CONCLUSIONS: At the end of the study, it was seen that clinical recovery achieved by ATX and OROS-MPH therapy was associated with improved cognitive processes, and that these agents do not only lead to behavioral changes but also to an improvement in cognitive processes. In addition, improvements in cognitive processes occurred simultaneously with behavioral recovery. Behavior is the result of neurocognitive processes, and further studies on the domains that these drugs affect, or the way in which these agents exert their effects, are needed.


Asunto(s)
Clorhidrato de Atomoxetina/uso terapéutico , Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Función Ejecutiva/efectos de los fármacos , Metilfenidato/uso terapéutico , Administración Oral , Inhibidores de Captación Adrenérgica/efectos adversos , Inhibidores de Captación Adrenérgica/uso terapéutico , Clorhidrato de Atomoxetina/efectos adversos , Trastorno por Déficit de Atención con Hiperactividad/psicología , Estimulantes del Sistema Nervioso Central/administración & dosificación , Estimulantes del Sistema Nervioso Central/efectos adversos , Estimulantes del Sistema Nervioso Central/uso terapéutico , Niño , Cognición/efectos de los fármacos , Femenino , Humanos , Masculino , Metilfenidato/administración & dosificación , Metilfenidato/efectos adversos , Pruebas Neuropsicológicas , Ósmosis , Estudios Prospectivos , Escalas de Valoración Psiquiátrica , Resultado del Tratamiento
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