Rett syndrome is a neurodevelopmental genetic disorder and, because of some behavioral characteristics, individuals affected by the disease are known as silent angels. Girls with Rett syndrome perform stereotyped movements, they have learning difficulties, their reaction time is prolonged, and they seem alienated in the environment. These children require constant pediatric, neurological and orthopedic care. In the treatment of Rett syndrome physical therapy, music therapy, hydrotherapy, hippotherapy, behavioral methods, speech therapy and diet, are also used. In turn, psychological therapy of the syndrome is based on the sensory integration method, using two or more senses simultaneously. In 80% of cases, the syndrome is related to mutations of the MECP2 gene, located on chromosome X. The pathogenesis of Rett syndrome is caused by the occurrence of a non-functional MeCP2 protein, which is a transcription factor of many genes, i.e. Bdnf, mef2c, Sgk1, Uqcrc1. Abnormal expression of these genes reveals a characteristic disease phenotype. Clinical symptoms relate mainly to the nervous, respiratory, skeletal and gastrointestinal systems. Currently causal treatment is not possible. However, researchers are developing methods by which, perhaps in the near future, it will be possible to eliminate the mutations in the MECP2 gene, and this will give a chance to the patient for normal functioning.The paper presents the etiology and pathogenesis of the disease, genetic, clinical, pharmacological aspects and other forms of Rett syndrome treatment.
Does better insight associated with the process of recovery mean a stronger sense of mental illness stigma? This article presents the relationship between a multidimensional construct, which is the insight and the phenomena of stigma and self-stigma of patients diagnosed with schizophrenia. It is well known that the term insight contains: a sense of illness, the patient's attitude to its symptoms, explanation of the causes of the illness, attitude to the rationale of treatment and awareness of the risk of relapse. On the other hand, self-stigma occurs when the patient internalizes and refers to himself/herselfnegative and stigmatizing social attitudes, conditioned by the presence of conventionalbeliefs, strengthened by the media, and this weakens the process of recovery.How much does good insight strengthen the patient on the way to fuller social functioning, and how much does it imprint stigma of mental illness and weaken its positionin society? The authors of the paper are discussing the subject of insight and stigma from the patient's perspective, over the patient’s attitude towards the diagnosis of schizophrenia, the process of recovery and the aspect of hope - important in recovery. These study of construct insight shows that the relationship insight-recovery-stigma is a multi-dimensional plane, dependent on various factors, that needs constant deepening and complementing with further research.
ObjectivesIntellectual functioning in schizophrenia has been associated with genetic vulnerability and obstetric complications.AimsThe aim of this study was to assess:– the incidence of complications during pregnancy, labor and delivery;– the association of OCs with general intellectual ability in two groups: patients with schizophrenia and their healthy siblings.MethodsForty-two patients with schizophrenia according to DSM-IV and 43 their healthy siblings were included in the study and examined using MINI and WAIS-R. Their mothers were interviewed to gather data on OCs. The ‘midwife protocol’ of Parnas et al. was used to quantify the presence and entity of OCs.ResultsAsphyxia, mother's serious illness during pregnancy, premature delivery with weight < 2500 g, labor time > 48 h, infarcts in the placenta and eclampsia were statistically more frequent in schizophrenic group. OCs were more common in individuals with a family history. The two investigated groups were different in the following WAIS-R subtests: comprehension (P = 0.018), block design (P = 0.0001), digit symbol (P = 0.001), as well as in performance IQ and total IQ. In the patient group, correlations between OCs indexes and WAIS-R results include all intelligence quotients (verbal, performance, total IQ) and 5 WAIS-R subtests, while in the sibling group: verbal and total IQ and 2 subtests. The correlation between Vocabulary subtest and OCs was the strongest in both groups.ConclusionOCs may interact with genetic vulnerability to increase the risk of schizophrenia and have been associated with cognitive deficits in the patient group.Disclosure of interestThe authors have not supplied their declaration of competing interest.
Introduction: Endophenotypes represent intermediate phenotypes on the putative causal pathway from the genotype to the phenotype. Endophenotype abnormalities in domains such as neurophysiology or neurocognition occur in schizophrenia patients as well as their clinically "unaffected" relatives, and reflect polymorphisms in the DNA of schizophrenia spectrum subjects which create vulnerability to developing schizophrenia. Aims: The aim of our study was searching endophenotype traits in schizophrenia among H1MRS results according to Gur at al (2007) following criteria: I. Association with illness-moderate to large effect sizes between schizophrenia patients and controls II. State independent III. Heritability IV. Found in unaffected relatives at a higher rate than in the general population. Methods: We examined the H1 MRS-NAA, Cho, mI, GLX, Cr metabolite ratios in 9 brain structures: Nucleus caudatus(NC), Nucleus lentiformis(NL), Nucleus lateralis thalami(NLT), Prefrontal cortex(PC), Anterior cingulate gyrus(ACG), Centrum semiovale(CS), Posterior cingulate gyrus(PCG), Hippocampus(H), Cerebellum(CE) of 36 patients with schizophrenia, 33 unaffected siblings, 18 control group. Results: With the reference to the analyzed 408 neurometabolical variables, criterion I was fulfilled by 25 variables from the following structures:
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