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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. [ABSTRACT FROM AUTHOR]

A correction to this paper has been published: https://doi.org/10.1007/s00787-021-01754-1 [ABSTRACT FROM AUTHOR]

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.

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.

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.

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.

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.

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.