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Introduction: Children with non-syndromic orofacial clefts are at higher risk for developmental difficulties. Speech and language as commonly affected developmental domains in these children. Objectives: The aim of the current study was to explore the effects of early interventions for speech and language on later cognitive outcomes in this patient population. Methods: A combined retrospective/prospective-comparative study was carried out at the Department of Pediatrics of the University of Pécs in Hungary. The participants were children between 6 and 16 years of age. The study consisted of a self-designed demographic questionnaire and an IQ test (WISC-IV). Results: A total of 41 children with non-syndromic orofacial clefts and 44 age-matched controls participated in the study. Children of the cleft group were examined by pedagogical professional services and required special education plans significantly more often than controls (p<0.001 and p=0.02, respectively). Participants of the cleft group who received early speech and language therapy score higher on the Verbal Comprehension Index (p=.005). Full-Scale IQ score was also higher for cleft participants who received therapy, however not significant but borderline (p=0.08). Conclusions: Early language and speech interventions for children with non-syndromic orofacial clefts may have a positive effect on verbal skills and overall cognitive development. Future longitudinal studies examining baseline cognitive functioning of infants are needed to provide more conclusive evidence on the effects of interventional programs on speech and language development in cleft patients. Disclosure of Interest: None Declared [ABSTRACT FROM AUTHOR]

Introduction: Nonsuicidal self-injury (NSSI) is a self-damaging behavior with typical onset in early adolescence, and shows greater prevalence in females. NSSI is defined by recurrent episodes of intentional self-inflicted damage to body tissue, without suicidal intent. These recurring self-inflicted injuries are done by the indivuduel to relief oneself from negative feelings, to resolve interpersonal difficulties, or to induce positive feelings. NSSI in DSM-5. has been included among the conditions in need of further study. NSSI can be interpreted as a maladaptive coping mechanism that can be regarded as an emotional dysregulation. Adverse childhood experiences including physical abuse, neglect or sexual abuse are the strongest predictors of the NSSI. Research has repetitively found strong associations between NSSI and identity diffusion and/or distorted personality traits. Objectives: The aim of our study was to assess the association between childhood traumatization, personality characteristics including stages of identity development, and self-injurious behavior among female adolescents that experience difficulties with emotional regulation. Methods: We compared our results to a Hungarian normative sample. The sample consisted of inpatients adolescents, age between 14 and 18, with a diagnosis consisting of „Emotional disorders with onset specific for childhood" or „Mixed disorders of conduct and emotions" with chronic nonsuicidal self-injurious behavior. Childhood traumatization was measured with the short version of Childhood Trauma Questionnaire (H-CTQ-SF). Identity development and identity diffusion were measured with the Assessment of Identity Development in Adolescence Questionnaire (AIDA). Temperament and character factors were measured with the Junior Temperament and Character Inventory (JTCI). Results: Adolescent patients with NSSI reported severe and multiplex childhood traumatization. These patients scored higher on novelty seeking and harm avoidance and scored lower on the persistence, self-directedness, and cooperativeness factors in the JTCI. These results were compared with the Hungarien normative sample. Adolescents scored higher on the Discontinuity and Incoherence scales of the AIDA. Conclusions: Our preliminary results suggest that childhood traumatization predicts self-injurious behavior in adolescent females. Additionally, we have found associations between signs indicative of personality disorder, including lower level of self-cohesion, self-integration and self-directedness. Disclosure of Interest: None Declared [ABSTRACT FROM AUTHOR]

Many women with mental illnesses would like to breast feed their infants. In light of the limited but rapidly growing data, it seems that in some cases the possible physiological and psychological benefits may outweigh putative risks. All antipsychotics are secreted into breast milk but the concentrations and effects vary. There is a subgroup of mothers with mental illnesses who want to breast feed their infants and who are receiving a single established antipsychotic drug (principally, haloperidol or chlorpromazine) at the lowest possible clinically effective dose. As a tentative conclusion, this group could experience benefits from being able to nurse which would outweigh the risk of exposing their babies to very small amounts of antipsychotic drugs. However, larger study groups with longer follow-up periods would be required to confirm this tentative conclusion. Those mothers who require 2 or more antipsychotic drugs simultaneously and those taking one drug, but at the upper end of the recommended dose range, should not be advised to breast feed. Safety considerations suggest that women taking atypical antipsychotics would be advised not to breast feed because of the limited experience with these agents. When mothers taking antipsychotic drugs do nurse, it is desirable to monitor drug concentrations in breast milk and in the infants themselves. Close monitoring of the infant is essential. [ABSTRACT FROM AUTHOR]

It has been recognized that subtle, cosmetically insignificant anomalies tend to occur cumulatively in diseases with neurodevelopmental origin. These visible signs of morphogenesis errors are called minor physical anomalies (MPAs), serving as sensitive external markers of abnormal neurodevelopment. After the introduction of the Waldrop Scale, the studies conducted on MPAs in diseases with neurodevelopmental origin gave conflicting results. It has been debated that this discrepancy can be - at least partly - attributed to the use of the Waldrop Scale. Understanding the need of a comprehensive scale of MPAs that also differentiates according to the time of development, Hungarian pediatrician professor of University of Pécs, Károly Méhes developed a scale with 57 items, the only scale differentiating minor malformations from phenogenetic variants. With the use of the Méhes Scale, our research group has been investigating the role of abnormal neurodevelopment in different neuropsychiatric and neurologic disorders since 1997. 25 years into our research, in this review we summarize the results of our 18 research articles on MPAs in different diseases. We have found an increased number of MPAs, especially in the head and mouth region, in patients with schizophrenia, bipolar disorder, Tourette syndrome, autism and many epilepsy syndromes, fortifying the role of abnormal neurodevelopment in these diseases. Moreover, an increased number of MPAs was detected among the first-degree relatives of patients with schizophrenia and bipolar I disorder, supporting the hypothesis about MPAs being endophenotypic trait markers., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Tényi, Csábi, Janszky, Herold and Tényi.)

Objective: To compare psychiatric emergencies and self-harm at emergency departments (EDs) 1 year into the pandemic, to early pandemic and pre-pandemic, and to examine the changes in the characteristics of self-harm presentations., Method: This retrospective cohort study expanded on the Pandemic-Related Emergency Psychiatric Presentations (PREP-kids) study. Routine record data in March to April of 2019, 2020, and 2021 from 62 EDs in 25 countries were included. ED presentations made by children and adolescents for any mental health reasons were analyzed., Results: Altogether, 8,174 psychiatric presentations were recorded (63.5% female; mean [SD] age, 14.3 [2.6] years), 3,742 of which were self-harm presentations. Rate of psychiatric ED presentations in March to April 2021 was twice as high as in March to April 2020 (incidence rate ratio [IRR], 1.93; 95% CI, 1.60-2.33), and 50% higher than in March to April 2019 (IRR, 1.51; 95% CI, 1.25-1.81). Rate of self-harm presentations doubled between March to April 2020 and March to April 2021 (IRR, 1.98; 95% CI, 1.68-2.34), and was overall 1.7 times higher than in March to April 2019 (IRR, 1.70; 95% CI, 1.44-2.00). Comparing self-harm characteristics in March to April 2021 with March to April 2019, self-harm contributed to a higher proportion of all psychiatric presentations (odds ratio [OR], 1.30; 95% CI, 1.05-1.62), whereas female representation in self-harm presentations doubled (OR, 1.98; 95% CI, 1.45-2.72) and follow-up appointments were offered 4 times as often (OR, 4.46; 95% CI, 2.32-8.58)., Conclusion: Increased pediatric ED visits for both self-harm and psychiatric reasons were observed, suggesting potential deterioration in child mental health. Self-harm in girls possibly increased and needs to be prioritized. Clinical services should continue using follow-up appointments to support discharge from EDs., Diversity & Inclusion Statement: One or more of the authors of this paper self-identifies as a member of one or more historically underrepresented racial and/or ethnic groups in science. We actively worked to promote inclusion of historically underrepresented racial and/or ethnic groups in science in our author group. While citing references scientifically relevant for this work, we also actively worked to promote inclusion of historically underrepresented racial and/or ethnic groups in science in our reference list. The author list of this paper includes contributors from the location and/or community where the research was conducted who participated in the data collection, design, analysis, and/or interpretation of the work., (Copyright © 2023 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.)

Introduction: The higher rate of neuropsychiatric disorders in individuals with non-syndromic orofacial clefts has been well documented by previous studies. Our goal was to identify children with non-syndromic orofacial clefts that are at risk for abnormal neurodevelopment by assessing their developmental history and present cognitive functioning., Materials and Methods: A single-center, case-controlled study was carried out at the Department of Pediatrics of the University of Pécs in Hungary. The study consisted of three phases including questionnaires to collect retrospective clinical data and psychometric tools to assess IQ and executive functioning., Results: Forty children with non-syndromic oral clefts and 44 age-matched controls participated in the study. Apgar score at 5 min was lower for the cleft group, in addition to delays observed for potty-training and speech development. Psychiatric disorders were more common in the cleft group (15%) than in controls (4.5%), although not statistically significant with small effect size. The cleft group scored lower on the Continuous Performance Test. Subgroup analysis revealed significant associations between higher parental socio-economic status, academic, and cognitive performance in children with non-syndromic orofacial clefts. Analyzes additionally revealed significant associations between early speech and language interventions and higher scores on the Verbal Comprehension Index of the WISC-IV in these children., Discussion: Children with non-syndromic orofacial clefts seem to be at risk for deficits involving the attention domain of the executive system. These children additionally present with difficulties that affect cognitive and speech development. Children with non-syndromic orofacial clefts show significant skill development and present with similar cognitive strengths as their peers. Longitudinal studies with larger sample sizes are needed to provide more conclusive evidence on cognitive deficits in children with non-syndromic orofacial clefts at risk for neurodevelopmental difficulties., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Sándor-Bajusz, Dergez, Molnár, Hadzsiev, Till, Zsigmond, Vástyán and Csábi.)

Our aim was to investigate the rate and topological profile of minor physical anomalies (MPAs) in adult patients with epilepsy with the use of the Méhes Scale, a comprehensive modern scale of dysmorphology. Consecutive epilepsy patients admitted for outpatient evaluation were included. Patients with comorbidities of neurodevelopmental origin (such as autism, severe intellectual disability, attention deficit hyperactivity disorder, schizophrenia, tic disorder, Tourette syndrome, bipolar disorder, specific learning disorder and specific language impairment) were excluded. All participants underwent physical examination with the use of the Méhes Scale for evaluation of MPAs, including 57 minor signs. The frequency and topological profile of MPAs were correlated to clinical patient data using Kruskal-Wallis, chi2 tests and logistic regression model. 235 patients were included, according to the following subgroups: acquired epilepsy (non-genetic, non-developmental etiology) [N = 63], temporal lobe epilepsy with hippocampal sclerosis (TLE with HS) [N = 27], epilepsy with cortical dysgenesis etiology [N = 29], cryptogenic epilepsy [N = 69] and idiopathic generalized epilepsy (IGE) [N = 47]. As controls, 30 healthy adults were recruited. The frequency of MPAs were significantly affected by the type of epilepsy [H(6) = 90.17; p < 0.001]. Pairwise comparisons showed that all patient groups except for acquired epilepsy were associated with increased frequency of MPAs (p < 0.001 in all cases). Furrowed tongue and high arched palate were more common compared to controls in all epilepsy subgroup except for TLE (p < 0.001 or p = 0.001 in all cases). A positive association was detected between the occurrence of MPAs and antiepileptic drug therapy resistance [Exp(B) = 4.19; CI 95% 1.37-12.80; p = 0.012]. MPAs are more common in patients with epilepsy, which corroborates the emerging concept of epilepsy as a neurodevelopmental disorder. Assessment of these signs may contribute to the clarification of the underlying etiology. Moreover, as increased frequency of MPAs may indicate pharmacoresistance, the identification of patients with high number of MPAs could allow evaluation for non-pharmacological treatment in time., (© 2022. The Author(s).)

Patients suffering from encephalitis may present psychiatric symptoms; however, the clinical relevance of anti-neuronal antibodies in patients experiencing a psychotic episode without encephalitis is still unclear. In this study, we examined the presence of anti-neuronal cell surface autoantibodies and onconeural autoantibodies in serum samples of 22 synthetic cannabinoid users presenting with psychosis. We found only two positive cases; however, seven patients had borderline results. Nonetheless, we found no significant correlation between anti-neuronal autoantibodies and the intensity of psychosis indicated by the Positive and Negative Syndrome Scale (PANSS) scores. The length of drug use and the combination of other drugs with synthetic cannabinoids have no significant effect on anti-neuronal autoantibody positivity. Nonetheless, the ratio of anti-citrate synthase (anti-CS) IgM and IgG natural autoantibodies was significantly lower ( p = 0.036) in the anti-neuronal autoantibody-positive/borderline samples, than in the negative group. Interestingly, anti-CS IgM/IgG showed a significant negative correlation with PANSS-positive score ( p = 0.04, r = -0.464). Our results demonstrated that anti-neuronal autoantibody positivity occurs in synthetic cannabinoid users, and the alteration of anti-CS IgM/IgG natural autoantibody levels points to immunological dysfunctions in these cases., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Hau, Tényi, László, Kovács, Erdö-Bonyár, Csizmadia, Berki, Simon and Csábi.)

Minor physical anomalies are somatic markers of aberrant neurodevelopment, so the higher prevalence of these signs among the relatives of bipolar I patients can confirm minor physical anomalies as endophenotypes. The aim of the study was to evaluate the prevalence of minor physical anomalies in first-degree healthy relatives of patients with bipolar I disorder compared to normal control subjects. Using a list of 57 minor physical anomalies (the Méhes Scale), 20 first-degree unaffected relatives of patients with the diagnosis of bipolar I disorder and as a comparison 20 matched normal control subjects were examined. Minor physical anomalies were more common in the ear, head, mouth and trunk regions among the relatives of bipolar I patients compared to normal controls. By the differentiation of minor malformations and phenogenetic variants, we have found that both minor malformations and phenogenetic variants were more common among the relatives of bipolar I patients compared to the control group, while individual analyses showed, that one minor malformation (sole crease) and one phenogenetic variant (high arched palate) were more prevalent in the relative group. This is the first report in literature on the increased prevalence of minor physical anomalies among the first-degree unaffected relatives of bipolar I patients. The study support the concept, that minor physical anomalies can be endophenotypic markers of bipolar I affective disorder., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Csulak, Csábi, Herold, Vörös, Jeges, Hajnal, Kovács, Simon, Herold, Tóth and Tényi.)

The authors overview the clinical, epidemiological, pathophysiological and therapeutic aspects of catatonia in childhood and adolescence. They deal with the recent changes of the nosological position of the phenomenon, and emphasize the importance of specific therapeutic interventions.

Background Childhood obesity proves to be an important public health issue, since it serves as a potential risk factor for multiple diseases. Food addiction could also serve as an important etiological factor. As childhood obesity plays a serious issue also in Hungary, we aimed to adapt and validate the Hungarian version of the Yale Food Addiction Scale for Children (H-YFAS-C). Methods A total of 191 children were assessed with the H-YFAS-C and the Eating Disorder Inventory (EDI). The following psychometric properties were analyzed: internal consistency, construct validity, convergent, and discriminant validity. Results A good construct validity was revealed by confirmatory factor analysis (RMSEA = 0.0528, CFI = 0.896, χ 2 value = 279.06). Question 25 proved to have no significant effect on its group and was removed from further analyses. The Kuder-Richardson 20 coefficient indicated good internal consistency (K20 = 0.82). With the use of the eight EDI subscales, a good convergent and discriminant validity could be determined. Food addiction was diagnosed in 8.9% of children. The mean symptom count was 1.7 ± 1.2 (range: 0-7). Females were more often diagnosed with food addiction than males (p = .016; OR = 3.6, 95% CI: 1.2-10.6). BMI percentiles were significantly higher in children with diagnosed food addiction (p = .003). There proved to be no correlation between age and the occurrence of food addiction. Discussion and conclusion Our results show that H-YFAS-C is a good and reliable tool for addictive-like behavior assessment.

Minor physical anomalies (MPAs) are external markers of abnormal brain development, so the more common appearence of these signs among bipolar I and bipolar II patients can confirm the possibility of a neurodevelopmental deficit in these illnesses. The aim of the present study was to investigate the rate and topological profile of minor physical anomalies in patients with bipolar I and - first in literature - with bipolar II disorders compared to matched healthy control subjects. Using a list of 57 minor physical anomalies (the Méhes Scale), 30 bipolar I and 30 bipolar II patients, while as a comparison 30 matched healthy control subjects were examined. Significant differences were detected between the three groups comparing the total number of minor physical anomalies, minor malformations and phenogenetic variants and in the cases of the ear and the mouth regions. The individual analyses of the 57 minor physical anomalies by simultaneous comparison of the three groups showed, that in the cases of furrowed tongue and high arched palate were significant differences between the three groups. The results can promote the concept, that a neurodevelopmental deficit may play a role in the etiology of both bipolar I and bipolar II disorders., (Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.)

The increased prevalence of minor physical anomalies (MPAs) and the abnormalities of dermatoglyphic patterns may be physical manifestations of neurodevelopmental disruption in affective disorders. This paper aims to review the current state of knowledge on the frequency of MPAs and dermatoglyphic abnormalities in mood disorders. A MEDLINE, PsychInfo and Web of Science search was carried out to collect all publications on the frequency of MPAs and on dermatoglyphic traits in bipolar disorder and unipolar depression. 24 studies on MPAs, 19 on dermatoglyphics, and 5 dealing with both were found with discrepant findings. The relative contribution of neurodevelopmental retardation to the aetiology of affective disorders remains undetermined, the field is open for further research. Increased recognition of neurodevelopmental processes in the origin of affective disorders may allow for earlier and more effective intervention and prevention.

Minor physical anomalies are external markers of abnormal brain development,so the more common appearance of these signs among the relatives of schizophrenia patients can confirm minor physical anomalies as intermediate phenotypes. The aim of the present study was to investigate the rate and topological profile of minor physical anomalies in the first-degree unaffected relatives of patients with schizophrenia compared to matched normal control subjects. Using a list of 57 minor physical anomalies (the Méhes Scale), 20 relatives of patients with the diagnosis of schizophrenia and as a comparison 20 matched normal control subjects were examined. Minor physical anomalies were more common in the head and mouth regions among the relatives of schizophrenia patients compared to normal controls. By the differentiation of minor malformations and phenogenetic variants, we have found that only phenogenetic variants were more common in the relatives of schizophrenia patients compared to the control group, however individual analyses showed, that one minor malformation (flat forehead) was more prevalent in the relative group. The results can promote the concept, that minor physical anomalies can be endophenotypic markers of the illness., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Introduction: Food addiction is a condition presenting with a similar symptomatology to that of drug addiction, with an underlying individual sensitivity and special adaptation to certain foods, being consumed regularly. The concept of food addiction created one of the central issues in addiction research, owing to the pandemic spreading of obesity causing serious public health concerns. Development of an objective, standardized measuring tool of food addiction has become markedly necessary for both research and public health purposes., Methods: Literature overview in the fields of food addiction and Yale Food Addiction Scale (1956-2016)., Results: For the establishment of food addiction diagnosis, the Yale Food Addiction Scale has become the most widely used method. It is an English questionnaire consisting of 25 questions, having been developed according to the 7 substance use disorder criteria in DSM-IV. The scale provides the possibility of diagnosis establishment, as well as measurement of food addiction severity. Development of the scale has given way to a number of new scientific results. The mean prevalence of food addiction is 19.7%, being more common in women, obese individuals, people >35 years and patients with already established eating disorders (binge eating disorder, bulimia). The most common symptom is the 'persistent desire or repeated unsuccessful attempts to quit'. A positive association has been recognized between food addiction symptomcount and the reward system dysfunction., Conclusion: The Yale Food Addiction Scale is a psychometrically valid, objective and standardized tool, being not only useful in addiction research but also helping in diagnosis establishment in clinical practice.

Minor physical anomalies may be external markers of abnormal brain development, so the more common appearance of these signs in homicidal schizophrenia might suggest the possibility of a more seriously aberrant neurodevelopment in this subgroup. The aim of the present study was to investigate the rate and topological profile of minor physical anomalies in patients with schizophrenia with the history of committed or attempted homicide comparing them to patients with schizophrenia without homicide in their history and to normal control subjects. Using a list of 57 minor physical anomalies, 44 patients with the diagnosis of schizophrenia were examined with the history of committed or attempted homicide, as a comparison 22 patients with the diagnosis of schizophrenia without the history of any kind of homicide and violence and 21 normal control subjects were examined. Minor physical anomalies are more common in homicidal schizophrenia patients compared to non-homicidal schizophrenia patients and normal controls, which could support a stronger neurodevelopmental component of etiology in this subgroup of schizophrenia. The higher rate of minor physical anomalies found predominantly in the head and mouth regions in homicidal schizophrenia patients might suggest the possibility of a more seriously aberrant brain development in the case of homicidal schizophrenia., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

Introduction: Hereditary spastic paraplegia is the overall term for clinically and genetically diverse disorders characterized with progressive and variable severe lower extremity spasticity. The most common causes of autosomal dominantly inherited hereditary spastic paraplegias are different mutations of the spastin gene with variable incidence in different ethnic groups, ranging between 15-40%. Mutations in the spastin gene lead to loss of spastins function, causing progressive neuronal failure, which results in axon degeneration finally., Aim: The molecular testing of spastin gene is available in the institution of the authors since January, 2014. The experience gained with the examination of the first eleven patients is described in this article., Method: After polymerase chain reaction, Sanger sequencing was performed to examine the 17 exons of the spastin gene. Multiplex ligation-dependent probe amplification was performed to detect greater rearrangements in the spastin gene. Eight of the patients were examined in the genetic counseling clinic of the authors and after detailed phenotype assessment spastin gene testing was obtained. The other three patients were referred to the laboratory from different outpatient clinics., Results: Out of the 11 examined patients, four different pathogenic mutations were found in 5 patients., Conclusions: The first Hungarian data, gained with the examination of spastin gene are presented in this article. The five patients, in whom mutations were detected, represent 45.5% of all tested patients with hereditary spastic paraplegia, which is similar to those published in the international literature. Molecular testing and subsequent detailed genotype-phenotype correlations of the Hungarian patients may serve valuable new information about the disease, which later on may influence our therapeutic possibilities and decisions.

Objective: Anti-N-methyl-D-Aspartate encephalitis is a recently diagnosed autoimmune disorder with increasing significance. During this disease antibodies are produced against the subunit of the NMDA receptor, which cause different symptoms, both psychiatric and neurological. The aim of this publication is to introduce this disease, to facilitate the diagnosis and to recommend therapeutical guideline., Materials and Methods: In this review we summarized the relevant literature published between 2007 and 2015 giving emphasis on etiopathogenesis, diagnosis, differential diagnosis, treatment and prognosis., Results: In the etiology an underlying tumor or a viral agent should be considered. During the disease we can discern 3 periods: first prodromal viral infections-like symptoms can be seen, 1-2 weeks later psychiatric symptoms, such as aggression, sleep and behavior disturbances appear. After that neurological symptoms (tonic-clonic convulsions, aphasia, catatonia, orofacial dyskinesia, autonom lability, altered mental state) are typical, and the patient's condition deteriorates. For the correct diagnosis it is necessary to detect antibodies against the NMDA receptor from the serum and the liquor. Steroids, immunoglobulins and plasmaheresis are the first-line therapies. If the disease is unresponsive, then as a second-line therapy anti-CD 20 (Rituximab) and cyclophosphamid can be useful. Most of the patients are improving without any neurological sequale with prompt detection and appropriate therapy., Conclusion: It is important to be familiar with the symptoms, diagnosis and therapy of this disease as a practicing clinician, especially as a psychiatrist or neurologist. 75 percentage of the patients are admitted to psychiatric departments first because of the leading symptoms. Autoimmune NMDA encephalitis is a reversible disease after early diagnosis and treatment.

Minor physical anomalies are mild, clinically and cosmetically insignificant errors of morphogenesis which have a prenatal origin and may bear major informational value for diagnostic, prognostic and epidemiological purposes. Since both the central nervous system and the skin are derived from the same ectodermal tissue in utero, minor physical anomalies can be external markers of abnormal brain development and they appear more commonly in neurodevelopmental disorders. Recently studies were published on the prevalence of minor physical anomalies in the relatives of patients with schizophrenia. In a systematic review of literature 11 studies were identified with mixed results. We suppose that the differentiation of minor malformations and phenogenetic variants can help to clarify the minor anomaly profile as a potential endophenotype in schizophrenia.

Background and Purpose: Minor physical anomalies are mild, clinically and cosmetically insignificant errors of morphogenesis which have a prenatal origin and may bear major informational value for diagnostic, prognostic and epidemiological purposes. Since both the central nervous system and the skin are derived from the same ectodermal tissue in utero, minor physical anomalies can be external markers of abnormal brain development and they appear more commonly in neurodevelopmental disorders. In a recently published meta-analysis Ozgen et al. have published the results of seven studies--all have used the Waldrop Scale which contains 18 minor physical anomalies--and reported on the higher prevalence of minor physical anomalies among patients with autism. There are only a very few data on the individual analysis of the prevalence of minor physical anomalies in autism., Methods: In our study we have studied the prevalence of 57 minor physical anomalies in 20 patients with autism and in 20 matched control subjects by the use of the Méhes Scale., Results: The prevalence of minor physical anomalies was significantly higher in the autism group (p < 0.001). The individual analysis of the 57 minor physical anomalies showed the significantly more frequent apperance of four signs (primitive shape of ear p = 0.047, abnormal philtrum p = 0.001, clinodactylia p = 0.002, wide distance between toes 1 and 2 p = 0.003). No correlation was found between the four significantly more common minor physical anomalies., Conclusion: The higher prevalence of minor physical anomalies in autism supports the neurodevelopmental hypothesis of the disorder and the individual analysis of minor physical anomalies can help to understand the nature of the neurodevelopmental defect.

Unlabelled: Smith-Lemli-Opitz syndrome (SLOS), a multiple congenital anomaly with severe mental retardation, is caused by decreased activity of 7-dehydrocholesterol reductase. Fifteen Hungarian patients were diagnosed with SLOS on the basis of clinical symptoms, serum cholesterol, 7-dehydrocholesterol, and molecular genetic testing. Their age at the time of diagnosis in mild SLOS (n = 4, clinical score <20) was 0.5-18 years, cholesterol was 2.37 ± 0.8 mmol/L, and 7DHC was 0.38 ± 0.14 mmol/L. In the group of typical SLOS (n = 7, score 20-50), the diagnosis was set up earlier (age of 0.1-7 years); t-cholesterol was 1.47 ± 0.7 mmol/L, and 7DHC was 0.53 ± 0.20 mmol/L. Patients with severe SLOS (n = 4, clinical score > 50) died as newborns and had the lowest t-cholesterol (0.66 ± 0.27 mmol/L), and 7DHC was 0.47 ± 0.14 mmol/L. Correlation coefficient with clinical severity was 0.74 for initial t-cholesterol and 0.669 for Cho/7DHC. Statistically significant difference was between the initial t-cholesterol of mild and severe SLOS (p = 0.01), and between the Cho/7DHC ratios of groups (p = 0.004). In severe SLOS, the percentage of α-lipoprotein was significantly lower than in typical (p = 0.003) and mild SLOS (p = 0.004). Although serum albumin, total bilirubin, and hemostasis parameters remained in the reference range during cholesterol supplementation (n = 10) combined with statin therapy (n = 9), increase of aspartate aminotransferase and alanine aminotransferase in 50 % of the patients probably refers to a reversible alteration of liver function; therefore, statin therapy was suspended., Conclusion: life expectancy is fundamentally determined by the initial t-cholesterol, but dehydrocholesterol and α-lipoprotein have prognostic value. Accumulation of hepatotoxic DHC may inhibit the synthesis of α-lipoproteins, decreasing the reverse cholesterol transport. During statin therapy, we suggest monitoring of lipid parameters and liver function.

Background: The influence of prenatal long-chain polyunsaturated fatty acids (LC-PUFAs) and folate on neurologic development remains controversial., Objective: The objective was to assess the long-term effects of n-3 (omega-3) LC-PUFA supplementation, 5-methyltetrahydrofolate (5-MTHF) supplementation, or both in pregnant women on cognitive development of offspring at 6.5 y of age., Design: This was a follow-up study of the NUHEAL (Nutraceuticals for a Healthier Life) cohort. Healthy pregnant women in 3 European centers were randomly assigned to 4 intervention groups. From the 20th week of pregnancy until delivery, they received a daily supplement of 500 mg docosahexaenoic acid (DHA) + 150 mg eicosapentaenoic acid [fish oil (FO)], 400 μg 5-MTHF, or both or a placebo. Infants received formula containing 0.5% DHA and 0.4% arachidonic acid (AA) if they were born to mothers receiving FO supplements or were virtually free of DHA and AA until the age of 6 mo if they belonged to the groups that were not supplemented with FO. Fatty acids and folate concentrations were determined in maternal blood at weeks 20 and 30 of pregnancy, at delivery, and in cord blood. Cognitive function was assessed at 6.5 y of age with the Kaufman Assessment Battery for Children (K-ABC)., Results: We observed no significant differences in K-ABC scores between intervention groups. Higher DHA in maternal erythrocytes at delivery was associated with a Mental Processing Composite Score higher than the 50th percentile in the offspring., Conclusion: We observed no significant effect of supplementation on the cognitive function of children, but maternal DHA status may be related to later cognitive function in children. This trial was registered at clinicaltrials.gov as NCT01180933.

Beneficial effects of perinatal DHA supply on later neurological development have been reported. We assessed the effects of maternal DHA supplementation on the neurological development of their children. Healthy pregnant women from Spain, Germany, and Hungary were randomly assigned to a dietary supplement consisting of either fish oil (FO) (500 mg/d DHA + 150 mg/d EPA), 400 μg/d 5-methyltetrahydrofolate, both, or placebo from wk 20 of gestation until delivery. Fatty acids in plasma and erythrocyte phospholipids (PL) were determined in maternal blood at gestational wk 20 and 30 and in cord and maternal blood at delivery. Neurological development was assessed with the Hempel examination at the age of 4 y and the Touwen examination at 5.5 y. Minor neurological dysfunction, neurological optimality score (NOS), and fluency score did not differ between groups at either age, but the odds of children with the maximal NOS score increased with every unit increment in cord blood DHA level at delivery in plasma PL (95% CI: 1.094-2.262), erythrocyte phosphatidylethanolamine (95% CI: 1.091-2.417), and erythrocyte phosphatidylcholine (95% CI: 1.003-2.643). We conclude that higher DHA levels in cord blood may be related to a better neurological outcome at 5.5 y of age.

In the majority of cases, anti-NMDA (N-methyl-D-aspartate) receptor encephalitis is a severe, but treatable disorder, therefore early diagnosis and adequate therapy are very important. It should be suspected in children and young women, who develop acute psychiatric symptoms and seizures. During the course of the disease severe encephalopathy, agitation, hallucinations, orofacial dyskinesias, prolonged cognitive disturbance, autonomic symptoms can be observed and akinetic mutism develops. EEG shows diffuse slowing. Brain MRI is normal or unspecific. Elevated protein, pleiocytosis and oligoclonal bands can be present in the CSF Detection of NMDA-receptor antibodies in sera or CSF confirms diagnosis. We present the case of a 15-year-old girl, who fully recovered within two months after steroid treatment and repeated plasma exchange. Ovarian teratoma has not been detected.

We report on the first published case of a Mycoplasma pneumoniae-associated transverse myelitis appearing in childhood and leading to persistent paraplegia and bowel and bladder dysfunctions. Magnetic resonance imaging of the spinal cord indicated extensive transverse myelitis extending from T(5)-T(12). A repeated scan established spinal cord atrophy in the affected area. Various therapies (methylprednisolone pulse therapy, plasmapheresis, and roxythromycine) produced no clinical effect.

We present the case history of a 3-year-old girl who was examined because of severe dystrophy. In the background, cow's milk allergy was found, but her body weight was unchanged after eliminating milk from her diet. Other types of malabsorption were excluded. Based on nasal regurgitation and facial dysmorphisms, the possibility of DiGeorge syndrome was suspected and was confirmed by fluorescence in situ hybridization. The authors suggest a new feature associated with DiGeorge syndrome.

Background: The increased frequency of MPAs may be external markers of abnormal brain development in affective disorders., Methods: A MEDLINE, psychInfo and Web of Science search was evaluated to collect all publications on the prevalence of minor physical anomalies in bipolar affective disorder and unipolar major depression., Aims: As reports on the prevalence of MPAs in affective disorders were controversial, were based on highly different number of patients and were evaluated by the use of scales with different sensitivities, we considered as important to review the current state of knowledge and to recommend directions to further research., Results: 14 publications on 12 studies were found after a careful literature search. 5 studies have dealt with the prevalence of MPAs in bipolar affective disorder, 3 have reported on examinations among patients with unipolar major depression, while 5 publications on 3 studies combined patients with bipolar affective disorder, schizoaffective disorder and unipolar major depression. 1 study was published on the prevalence of MPAs among mood disorders, without the differentiation of the data of patients with bipolar affective disorder and unipolar major depression., Limitations: Few studies with relatively small size were published, there is no data on the distinction between bipolar I and bipolar II disorders., Conclusion: The reviewed data suggest a higher probability of the role of an aberrant neurodevelopment in bipolar affective disorder and a smaller in unipolar major depression.

The authors examined the decoding of the flouting of the Gricean relevance maxim among children with mental retardation compared to a mental age matched control group with average intellectual capacities, where the cause of mental retardation was perinatal hypoxia. They have investigated the decoding deficit by five short "question and answer" conversation vignettes, where the flouting of the relevance maxim was presented. They have found significant deficit in the mental retardation group in their capacity to decode properly the flouting of the Gricean relevance maxim. These data are the first that point at a pragmatic language use deficit in mental retardation caused by perinatal hypoxia.

The authors observed the prevalence of informative morphogenetic variants among mentally retarded children. In their retrospective examination of a 4-years period, they included 135 hospitalized children and analysed their clinical epidemiological and dysmorphic profiles. In their descriptive analysis they found ear abnormalities and abnormal head circumference as the most common dysmorphic sings among mentally retarded children, and they emphasize the highly different importance and predictive-diagnostic value of minor malformations and phenogenetic variants.

The authors in a review article deal with characteristic cognitive and behavioral features appearing in mental retardations, which later are referred as behavioral phenotypes. Nyhan (1972) introduced the term "behavioral phenotype" to describe outwardly observable behavior so characteristic of children with genetic disorders that its presence suggests the underlying genetic condition. The behavioral phenotype is a characteristic pattern of motor, cognitive, linguistic and social abnormalities that is consistently associated with a biological/neurodevelopmental disorder. This does not mean that the behavior is present in all instances but that the probability of its occurrence is increased. In the future, more may be learned about brain mechanisms and gene-brain interactions by comparing those with behavioral involvement with others with the same syndrome but without the behavioral features.

Background: The prevalence of minor physical anomalies (MPAs) was evaluated in patients with unipolar recurrent major depression to get indirect data on the possible role of aberrant neurodevelopment in the aetiology of major depression. One published study [Lohr et al., Am. J. Geriatr. Psychiatry 5 (1997) 318] on the MPA prevalence in unipolar depression, evaluated by the recently widely criticized Waldrop-scale, reports on a significantly higher MPA rate among patients., Methods: A scale developed by Méhes [Prog. Clin. Biol. Res. 163 (1985) 45] was used to detect the presence or absence of 57 MPAs in 30 patients with major depression and in 30 matched controls., Results: The depressive sample did not differ significantly from the control group (P=0.200). By comparing each MPA individually we could not find any significant differences between the depressive and the control sample., Limitations: Patients and control subjects had a negative family history in connection with affective disorders; a high-risk population should give significant positive results., Conclusions: The results do not support the role of an 'early neurodevelopmental origin' in unipolar depression.

Previously we reported significantly higher values of gamma-linolenic acid (GLA, 18:3n-6), dihomo-gamma-linolenic acid (DHGLA, 20:3n-6), and arachidonic acid (20:4n-6) in plasma lipid classes in obese children than in nonobese controls. In the present study, fatty acid composition of plasma phospholipids (PL) and sterol esters (STE) was determined by high-resolution capillary gas-liquid chromatography in obese children with and without metabolic cardiovascular syndrome [MCS: defined as simultaneous presence of (i) dyslipidemia, (ii) hyperinsulinemia, (iii) hypertension, and.(iv) impaired glucose tolerance] and in nonobese controls. Fatty acid composition of PL and STE lipids did not differ between obese children without MCS and controls. Obese children with MCS exhibited significantly lower linoleic acid (LA, 18:2n-6) values in PL (17.43 [2.36], % wt/wt, median [range from the first to the third quartile]) than obese children without MCS (19.14 [3.49]) and controls (20.28 13.80]). In contrast, PL GLA values were significantly higher in obese children with (0.13 [0.08]) than in those without MCS (0.08 [0.04]), whereas STE GLA values were higher in obese children with MCS (1.04 [0.72]) than in controls (0.62 [0.48]). DHGLA values in PL were significantly higher in obese children with MCS (4.06 [0.74]) than in controls (2.69 [1.60]). The GLA/LA ratio was significantly higher, whereas the AA/DHGLA ratio was significantly lower in obese children with MCS than in obese children without MCS and in controls. In this study, LA metabolism was affected only in obese children with but not in those without MCS. In obese children with MCS, delta6-desaturase activity appeared to be stimulated, whereas delta5-desaturase activity appeared to be inhibited. Disturbances in LA metabolism may represent an additional health hazard within the multifaceted clinical picture of MCS.

Childhood obesity is accompanied by a variety of cardiovascular risk factors (hypertension, insulin resistance, dyslipidaemia) which tend to aggregate (syndrome X). 11beta-hydroxysteroid dehydrogenase (11beta-HSD) is supposed to play a role in the pathogenesis of hypertension and the development of syndrome X. There are two isoforms of 11beta-HSD. 11beta-HSD-2 is responsible for the inactivation of cortisol to inactive cortisone. In the case of impaired enzyme activity the ratio of urinary tetrahydrocortisol (THF)+ its isomer allotetrahydrocortisol (5alpha-THF)/tetrahydrocortisone (THE) is elevated. 11beta-HSD-1 is an oxo-reductase, which type catalyses the conversion of cortisone to cortisol. The aim of the present study was to investigate if there was any alteration in the urinary cortisol metabolites reflecting 11beta-HSD activity in hypertensive obese children (no.=15) as compared to normotensive obese (no.=11) and normotensive non-obese children (no.=15). We found an increased excretion of cortisol metabolites in hypertensive obese children compared to obese and normal - weight children having normal blood pressure. The ratio of THF+5alpha(THF/THE had a significant correlation with systolic blood pressure. On the basis of our study the ratio of THF+5alpha-THF/ THE reflecting on altered enzyme activity seems to be an independent factor influencing especially systolic blood pressure in hypertensive obese children.

The authors compare the appearance of depressive symptoms in 30 obese children in outpatient care and 30 normal-weight controls. The Montgomery-Asberg Depression Rating Scale showed a significantly higher rate of depression in the obese children (p < 0.01). The results are interpreted in the light of the partially contradictory views in the literature. Reference is also made to the therapeutic aspects of the problem.

Unlabelled: The aim of the present study was to investigate the aggregation of cardiovascular risk factors (hyperinsulinaemia, impaired glucose tolerance, dyslipidaemia, and hypertension) in 180 (77 female, 103 male) obese and 239 control children. Blood glucose, serum insulin and lipid levels were determined from blood samples taken after an overnight fast. Oral glucose tolerance tests were performed and blood glucose concentrations were monitored. The body mass index, body fat (on the basis of skinfold measurements), lean body mass and waist/hip ratio were calculated and blood pressure was measured five times in all subjects. It was shown that only 14.4% of obese children were free from any risk factors, in contrast to 79.1% of the control children. Four risk factors (metabolic cardiovascular syndrome) were found in 8.9% of the obese children (8.7% in males and 9.1% in females) while none could be detected in controls. Considerable differences were also detected in the prevalence of one, two or three risk factors between control and obese children. Patients with the metabolic cardiovascular syndrome could not be characterized by any of the investigated anthropometric characteristics, but the duration of obesity was significantly longer in these children., Conclusion: Potential risk factors for cardiovascular diseases already tend to cluster in childhood and they are strongly associated with obesity. Our observations suggest that the development of the metabolic cardiovascular syndrome has its origin in childhood.

Objective: The authors evaluated the presence or absence of informative morphogenetic variants in patients with schizophrenia compared with alcohol-dependent patients., Methods: Taking into consideration the criticisms of the Waldrop Scale, which was widely used until recently to define the presence of informative morphogenetic variants, the authors evaluated the presence or absence of 56 informative morphogenetic variants in 50 consecutively admitted patients with schizophrenia and 50 consecutively admitted alcohol-dependent patients. They made a distinction between minor malformations (those developing during organogenesis) and phenogenetic variants (those developing after organogenesis). A kappa index above 75% was considered reliable., Results: Thirty-four of the 56 informative morphogenetic variants met the authors' reliability criterion. Patients with schizophrenia had significantly higher rates of three minor malformations (furrowed tongue, multiple buccal frenula, and hemangioma) and two phenogenetic variants (protruding auricle and large tongue)., Conclusions: The results suggest that using finer distinction in the evaluation of informative morphogenetic variants in schizophrenia may open new perspectives in the research of the neurodevelopmental background of schizophrenia.

The occurrence of multimetabolic syndrome was studied in 114 (63 boys, 51 girls) obese children. From the blood sample taken after on overnight fast blood sugar, serum insulin, and lipid levels were determined. During oral glucose tolerance test blood sugar concentrations were followed. Body mass index, body fat (on the basis of skinfold measurements), lean body mass and waist/hip ratio were calculated and blood pressure was measured 6 times in all subjects. Multimetabolic syndrome was found in 16% of boys and 19.6% of girls. No significant sex difference in the frequency of multimetabolic syndrome was found. Patients with multimetabolic syndrome could not be characterized by high waist/hip ratio any other antropometric parameter. The duration of obesity was significantly higher in subjects with multimetabolic syndrome than in those not suffering from the syndrome. This finding supports the hypothesis that the development of the multimetabolic syndrome is a process. The authors emphasize the significance of this problem and the importance of early recognition and prevention.