Autism spectrum disorder and Coffin-Siris syndrome-Case report.

Introduction: Autism spectrum disorders (ASDs) are a group of developmental disorders characterized by deficits in social communicative skills and the occurrence of repetitive and/or stereotyped behaviors. Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degrees, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. In this study, we present a detailed description of autistic traits in a boy diagnosed with CSS and further discuss their genetic backgrounds. Case description: An 8-year-old boy with ASD, congenital anomalies, and neurological problems had been diagnosed with Coffin-Siris syndrome after genetic testing. Genetic testing revealed a heterozygous de novo pathogenic variant (class 5) c.1638_1647del in the ARID1B gene that is causative of Coffin-Siris syndrome but also other intellectual disability (ID)-related disorders, including autism. Tests that preceded the diagnoses, as well as congenital anomalies and developmental issues, were further described in an attempt to better present his phenotype. Conclusion: Both autism and ARID1B-related disorders are on a spectrum. This report points out the importance and necessity of further research regarding the genetic backgrounds of these disorders to understand their complex etiology.

How are parental practices and attitudes towards corporal punishment related to child academic, developmental, or psychological-emotional dysfunctioning?

Corporal punishment (CP) is a widely spread disciplining practice among parents and caregivers globally. Our paper aimed to explore the relationship between the parental attitudes towards CP, expected outcomes of CP, and parenting practices on one hand, with the reported dysfunctions of their children, on the other. Additionally, we aimed to explore the relationship between the use of CP and the reported academic, developmental, and psychological-emotional dysfunctions of their children. The present study involved a nationally representative sample of 1186 parents in Serbia, who had at least one child aged 0-18 years at the moment of interviewing. The parents filled out a series of questionnaires on their attitudes towards CP, expectations of CP outcomes, and their parental practices. Findings indicate that parents that report having a child with dysfunctions have positive attitudes towards CP and expect positive outcomes of CP. These parents also report using more CP as a disciplining method, as well as other harsh disciplining practices. We also identified parental positive expectations of CP, use of physical assault, psychological aggression, neglect as significant predictors of reported child dysfunctions severity. Having all the results in mind, we can assume that children with health-related and school-related issues might be at potential risk of further maltreatment.

Determinants of quality of life among individuals seeking mental health care after termination of state of emergency due to the coronavirus disease 2019 pandemic.

ABSTRACT: Prompted by the need to measure the impact of the coronavirus disease 2019 on main areas of quality of life related to mental health (MH), the COV-19-impact on quality of life (COV19-QoL) scale has been developed recently. We measured how patients seeking face-to-face MH care perceived the coronavirus disease 2019 impact on QoL and how socio-demographic factors, stress, and personality contributed to QoL in this diagnostically diverse population.Patients aged 18 to 65 years (n = 251) who came for the first time to the outpatient units during the 6-week index-period (May 21-July 1, 2020) were included. The cross-sectional assessment involved sociodemographic variables, working diagnosis, personality traits (7-dimension model, including HEXACO and DELTA), stress (list of threatening experiences and proximity to virus), and COV19-QoL.The perceived impact of the pandemic on QoL was above the theoretical mean of a 5-point scale (COV19-Qol = 3.1 ±â€Š1.2). No association between total COV19-QoL score, sociodemographic parameters, and working diagnoses was found in the present sample. After testing whether positional (threatening experiences), or dispositional (personality) factors were predominant in the perceived impact of COV-19 on QoL, significant predictors of the outcome were personality traits Disintegration (B = 0.52; P < .01) and Emotionality (B = 0.18; P < .05).It seems that pervasiveness and uncertainty of the pandemic threat triggers-especially in those high on Disintegration trait-a chain of mental events with the decrease of QoL as a final result. Present findings could be used to establish a profile of MH help seeking population in relation to this biological disaster, and to further explore QoL and personality in different contexts.

Glutathione S-Transferase Polymorphisms and Clinical Characteristics in Autism Spectrum Disorders.

Background: Autism spectrum disorders (ASD) are a heterogeneous group of developmental disorders, with different levels of symptoms, functioning, and comorbidities. Recent findings suggested that oxidative stress and genetic variability in glutathione S-transferases (GSTs) might increase the risk of ASD development. We aimed to determine whether GST polymorphisms influence the severity of symptoms as well as the cognitive and adaptive abilities in children with ASD. Methods: The sample included 113 ASD cases. All participants were genotyped for GSTA1, GSTM1, GSTT1, and GSTP1 polymorphisms. The clinical characteristics were determined with Autism Diagnostic Interview-Revised (ADI-R) in all of the participants. In non-verbal participants, we explored the adaptive functioning using the Vineland Adaptive Behavior Scale II, while in verbal participants, we used the Wechsler Abbreviated Scale of Intelligence (WASI). Results: It was shown that the GSTA1 * CC genotype was a predictor of a lower non-verbal communication impairment as well as of a lower chance of having seizures during life. GSTM1-active genotype predicted a higher adaptive functioning. The predictive effect of GSTA1, GSTM1, and GSTT1 genotype was moderated by exposure during pregnancy (maternal smoking and medication). The GSTP1 * IleIle genotype was significantly associated to a better cognitive functioning in children with ASD. Conclusion: Besides the complex gene-environment interaction for the specific risk of developing ASD, there is also a possible complexity of interactions between genetic and environmental factors influencing the level of symptoms and impairment in people with ASD. Detoxification and antioxidant enzymes, such as GSTA1, might contribute to the core of this complexity.

Dopamine in Autism Spectrum Disorders-Focus on D2/D3 Partial Agonists and Their Possible Use in Treatment.

Autism spectrum disorders (ASD) are a group of disorders characterized by impairment in social communication and repetitive and stereotyped behaviors. ASD etiology is very complex, including the effect of both genetic and environmental factors. So far, no specific treatment for the core symptoms of ASD has been developed, although attempts have been made for the treatment of repetitive behavior. The pharmacological treatment is aimed at treating non-specific symptoms such as irritability and aggression. Recent studies pointed out to the possible role of altered dopamine signaling in mesocorticolimbic and nigrostriatal circuits in ASD. In addition, several research pointed out to the association of dopamine receptors polymorphism and ASD, specifically repetitive and stereotyped behavior. In this paper, we will provide a review of the studies regarding dopamine signaling in ASD, existing data on the effects of D2/D3 partial agonists in ASD, possible implications regarding their individual receptor profiles, and future perspectives of their possible use in ASD treatment.

Autism Spectrum Disorders and Perinatal Complications-Is Oxidative Stress the Connection?

Background: Autism spectrum disorders (ASD) are complex psychiatric disorders, with gene environment interaction being in the basis of their etiology. The association of perinatal complications and ASD is well established. Recent findings suggested that oxidative stress and polymorphism in genes encoding antioxidant enzymes might be involved in the development of ASD. Glutathione transferases (GSTs) have an important role in the antioxidant defense system. We aimed to establish whether the predictive effects of prenatal and perinatal complications (as possible oxidative stress inducers) on ASD risk are dependent on GST polymorphisms. Methods: The study included 113 ASD cases and 114 age- and sex group-matched healthy controls. All participants were genotyped for GSTA1, GSTM1, GSTT1, and GSTP1 polymorphisms. The questionnaire regarding prenatal and perinatal risk factors and complications was administered for all the subjects in the study. Results: The evaluated perinatal complications as a group significantly increased the risk of ASD [odds ratio (OR) = 9.415; p = 0.000], as well as individual perinatal complications, such as prematurity (OR = 11.42; p = 0.001), neonatal jaundice (OR = 8.774; p = 0.000), respiratory distress syndrome (OR = 4.835; p = 0.047), and the use of any medication during pregnancy (OR = 2.413; p = 0.03). In logistic regression model, adding GST genotypes did not modify the significant effects found for prematurity and neonatal jaundice as risk factors in ASD. However, there was a significant interaction of GST genotype with medication use during pregnancy and the use of tocolytics during pregnancy, which was predictive of ASD risk only in carriers of GSTM1-null, as opposed to carriers of GSTM1-active genotype. Conclusion: Specific perinatal complications may be significant risk factors for ASD. GSTM1 genotype may serve as a moderator of the effect of some prenatal factors on the risk of ASD such as using medication during pregnancy. It may be speculated that different oxidative stress-related genetic and environmental factors could lead to development of ASD. Apart from etiological mechanisms, possible therapeutic implications in ASD are also discussed.

Interaction of glutathione S-transferase polymorphisms and tobacco smoking during pregnancy in susceptibility to autism spectrum disorders.

Autism spectrum disorders (ASD) are a group of complex psychiatric disorders, with a proposed gene-environment interaction in their etiology. One mechanism that could explain both the genetic and environmental component is oxidative stress. The aim of our study was to investigate the potential role of common polymorphisms in genes for glutathione transferase A1, M1, T1 and P1 in susceptibility to ASD. We also aimed to explore the possible oxidative stress - specific gene-environment interaction, regarding GST polymorphisms, maternal smoking tobacco during pregnancy (TSDP) and the risk of ASD. This case-control study included 113 children with ASD and 114 age and sex-matched controls. The diagnosis was made based on ICD-10 criteria and verified by Autism Diagnostic Interview - Revised (ADI-R). We investigated GSTA1, GSTM1, GSTP1 and GSTT1 genotypes and explored their individual and combined effects in individuals with ASD. Individual effect of GST genotypes was shown for GSTM1 active genotype decreasing the risk of ASD (OR = 0.554, 95%CI: 0.313-0.983, p = 0.044), and for GSTA1 CC genotype, increasing susceptibility to ASD (OR = 4.132, 95%CI: 1.219-14.012, p = 0.023); the significance was lost when genotype-genotype interactions were added into the logistic regression model. The combination of GSTM1 active and GSTT1 active genotype decreased the risk of ASD (OR = 0.126, 95%CI: 0.029-0.547, p = 0.006), as well as combination of GSTT1 active and GSTP1 llelle (OR = 0.170, 95%CI: 0.029-0.992, p = 0.049). Increased risk of ASD was observed if combination of GSTM1 active and GSTP1 llelle was present (OR = 11.088, 95%CI: 1.745-70.456, p = 0.011). The effect of TSDP was not significant for the risk of ASD, neither individually, nor in interaction with specific GST genotypes. Specific combination of GST genotypes might be associated with susceptibility to ASD, while it appears that maternal smoking during pregnancy does not increase the risk of ASD.

Perceptions on Support, Challenges and Needs among Parents of Children with Autism: the Serbian Experience.

BACKGROUND: Autism spectrum disorders (ASD) significantly impact lives of affected individuals and their families. They confront daunting challenges and multiple demands in their daily life, when compared to parents of children with other disabilities or parents of typically developing children. SUBJECTS AND METHODS: Participants completed The Caregiver Needs Survey, the survey intended for parents or primary caregivers of children with a diagnosis of ASD. During the study, 231 parents were interviewed; 167 mothers and 64 fathers. Parents were recruited from the patient database comprised of families from the two largest cities in Serbia. All of them were contacted before the study, either via phone or at the child's regular check-in visit. RESULTS: Over 90 percent of the parents reported that additional support at schools, home, and improved relationships with service providers are necessary and important. The most important challenges related to care were child's communication difficulties, social interaction difficulties, and problems with daily living skills. The significant predictors of lower overall satisfaction were parent's higher education, having a first concern related to problems of the child's interaction with others or playing alone, and parent frustration with accessing services in the past 12 months. Greater overall satisfaction, on the other hand, was related to having an in-school tutor training or assistance in managing child's needs or implementing treatments, and having primary care doctor or pediatrician as a source of information on autism. CONCLUSIONS: Future efforts to develop ASD-related policies and services should also take the following into consideration: the low level of awareness among caregivers and health care providers about the early signs of autism; disparities in access to services; educational problems and significant levels of dissatisfaction with the overall care and stigma.

Timeline of Intergenerational Child Maltreatment: the Mind-Brain-Body Interplay.

PURPOSE OF REVIEW: Still obscure mechanisms of intergenerational child maltreatment (ITCM) have been investigated partially, from various psychological and biological perspectives and from various time perspectives. This review is aimed at integrating the findings on different temporal ITCM pathways, emphasizing the mind-brain-body interplay. RECENT FINDINGS: Psychological mediators of ITCM involve attachment, mentalization, dissociation, social information processing, personality traits, and psychiatric disorders. Neurobiological findings mostly refer to the neural correlates of caregiving and attachment behaviors, affected by several physiological systems (stress-response, immune, oxytocin), which also affect physical health. The latest research clusters around the epigenetic pathways of ITCM, suggesting the additional, prenatal, and preconception forms of transmission. Data suggest that ITCM needs to be conceptualized as a longitudinal process, with various interrelated psychological, neurodevelopmental, and somatic paths. Future research and prevention should take into account both, each path and each phase of ITCM, in an integrative way.

Impaired Redox Control in Autism Spectrum Disorders: Could It Be the X in GxE?

PURPOSE OF REVIEW: This review aims to provide a brief description of the complex etiology of autism spectrum disorders (ASD), with special emphasis on the recent findings of impaired redox control in ASD, and to suggest a possible model of oxidative stress-specific gene-environment interaction in this group of disorders. RECENT FINDINGS: Recent findings point out to the significance of environmental, prenatal, and perinatal factors in ASD but, at the same time, are in favor of the potentially significant oxidative stress-specific gene-environment interaction in ASD. Available evidence suggests an association between both the identified environmental factors and genetic susceptibility related to the increased risk of ASD and the oxidative stress pathway. There might be a potentially significant specific gene-environment interaction in ASD, which is associated with oxidative stress. Revealing novel susceptibility genes (including those encoding for antioxidant enzymes), or environmental factors that might increase susceptibility to ASD in carriers of a specific genotype, might enable the stratification of individuals more prone to developing ASD and, eventually, the possibility of applying preventive therapeutic actions.

Multicomponent Treatment in a Day Hospital for Adolescents: A Case of Good Practice.

The dynamics of adolescence require adjustments in psychiatric treatment because of the challenges of this developmental stage in life. This column describes the Day Hospital for Adolescents (DHA) of the Institute of Mental Health in Belgrade, Serbia, which was established in December 2007. The DHA is a holistic program for the treatment of youths ages 15-25 with emotional disorders. The multicomponent therapeutic program includes individual treatment, several group therapeutic activities, and work with patients' families and the school system. An evaluation of data obtained for 102 patients indicated that DHA treatment was associated with significant reductions in depression symptom severity and improved functioning. The adolescents reported a high level of treatment satisfaction. The results suggest that a multicomponent day hospital is an effective treatment modality for adolescents with emotional disorders.

Glutathione S-Transferase Deletion Polymorphisms in Early-Onset Psychotic and Bipolar Disorders: A Case-Control Study.

OBJECTIVE: To examine glutathione S-transferase (GST) deletion polymorphisms in development of early-onset severe mental disorders, with the hypothesis that patients with GSTM1-null and GSTT1-null genotypes will develop psychotic disorders at a younger age. METHODS: We identified GSTM1 and GSTT1 deletion polymorphisms by multiplex polymerase chain reaction (PCR) in 93 patients with early onset severe mental disorders and 278 control individuals. The diagnoses were confirmed by Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version and Schedule for Affective Disorders and Schizophrenia-Life-Time Version (K-SADS-PL) interviews. RESULTS: Individuals with the GSTM1-null genotype were at 3.36-fold higher risk of developing early-onset severe mental disorders than carriers of a corresponding active genotype. The risk of those disorders was increased by 6.59-fold in patients with GSTM1-null/GSTT1-active genotype. Patients with the GSTM1-null genotype were at approximately 2-fold increased risk for developing early-onset schizophrenia-spectrum disorder (EOS), early-onset bipolar disorder (EOBD) with psychotic symptoms, or early-onset first-episode psychosis (EOFEP), compared with patients with the GSTM1-active genotype. CONCLUSION: The GSTM1-null genotype might be associated with higher risk for early onset severe mental disorders.

Sex differences in autism spectrum disorders: does sex moderate the pathway from clinical symptoms to adaptive behavior?

We explored sex differences in diagnostic categories, clinical symptoms and adaptive behavior of persons with autism spectrum disorders, as well as sex-specific correlations of clinical and adaptive caracteristics. The study involved 108 patients (83 males, 6.73 ± 4.33 years old) diagnosed with autism spectrum disorders (ASD). Assessment included ADI-R and Vineland Adaptive Behavior Scale II. Males were more often diagnosed with typical autism. There were no sex differences in the autistic symptoms, while females showed better functioning in Daily living skills, without reaching statistically significant difference (p = 0.062). We have found different associations of autistic symptoms with different aspects of adaptive behavior in males and females. Social reciprocity in females correlated with social domain of adaptive behavior, in a positive direction. Our findings have shown that although there are no sex differences in autistic symptoms, females tend to be somewhat more functional, and are also less frequently diagnosed with typical autism. Our results have also shown that sex might moderate the way clinical symptoms are expressed in adaptive behavior. Social reciprocity might be the core feature regarding sex differences in ASD. Our findings might have diagnostic and therapeutical implications, pointing out to the need for individualized, sex-specific treatment in this group of disorders.