Clinical Neuroscience

[Minor physical anomalies in autism]

TÉNYI Tamás, JEGES Sára, HALMAI Tamás, CSÁBI Györgyi

JULY 30, 2013

Clinical Neuroscience - 2013;66(07-08)

[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.]



Further articles in this publication

Clinical Neuroscience

[Orthorexia nervosa and it’s background factors]

VARGA Márta, DUKAY-SZABÓ Szilvia, TÚRY Ferenc

[The place of orthorexia nervosa (ON) - described by Bratman in 1997 - is not clearly defined in the diagnostic systems. However, the increasing number of clinical experiences and research data gives us more and more information about the epidemiology, and the social and individual characteristics of ON. The general population shows a 6.9% prevalence of ON; healthcare professionals are at high risk of ON with the prevalence rate of 35-57.6%. Education, the choice of profession, socioeconomic status and the internalization of the ideals of society are significant factors in the development of ON, while sex, age and body mass index do not seem to be determining variables in this respect. The lack of common criteria and proper research results on ON makes it impossible to generalize data on the general population. Further studies with larger representative samples and assessment instruments with good psychometric properties are necessary to make research data on ON comparable.]

Clinical Neuroscience

[Prenatal diagnosis of central nervous system malformations]

LANGMÁR Zoltán, NÉMETH Miklós, CSABA Ákos, SZIGETI Zsanett, JOÓ József Gábor

[The prenatal diagnosis of fetal malformations have been the subject of numerous publications in the literature. This has dramatically increased in the last 15 years, mainly due to the advent of high-resolution ultrasound. In addition adequate guidelines issued by professional organizations have encouraged the universal approach to the imaging of fetal anatomy as well as malformations. One of the most significant groups of the fetal anomalies is the central nervous system malformation. Due to its prevalence and severity the praenatal diagnostics of central nervous system malformations got basic significance. In this review we attempted to summarize the recent informations concerning the praenatal diagnostics of the central nervous system anomalies.]

Clinical Neuroscience

[Sacral insufficiency fractures]

FERENC Mária, PUHL Mária, VARGA Péter Pál

[Background - The spontaneous osteoporotic fracture of the sacrum, known as a sacral insufficiency fracture (SIF) was first described as an unrecognized syndrome of the elderly by Laurie, in 1982. Numerous case histories and a few series of cases have been discussed in medical journals; however, none have been reported in Hungary. Goal - To delineate the leading diagnostic steps in the recognition of SIF and review the therapeutic guidelines. Case histories, methods - Between January 2009 and the first six months of 2010 11 cases of SIF were diagnosed at the National Center for Spinal Disorders. We examined the clinical aspects of the illness, the radiological modalities, the fracture markings, the pace of recovery and duration. Results - The 11 patients were found to have various SIF predestining etiological factors and the following classic fractures - H-type, unilateral, horizontal, unilateral-horizontal and vertical as well as a bilateral pattern. In cases often not showing obvious clinical symptoms and in cases resulting in conventional radiological examinations of low sensitivity and specificity, we used mapping techniques in setting up the exact diagnosis. Conclusion - If we consider SIF from patient history and known risk factors, diagnostic procedure (primer original) may be shortened and a number of unnecessary tests (biopsy) may be avoided.]

Clinical Neuroscience

[Exploration of quality of life goals in rehabilitation of persons after spinal cord injury]

TÓTH Katalin, PUTZ Miklós, KULLMANN Lajos

[Background and purpose - Surveyed references indicate improvement of rehabilitation outcomes if based on exploration of personal rehabilitation goals or quality of life goals. Purpose of our study is mapping of quality of life goals of persons entering rehabilitation by structured interviews, and study of applicability of the method. Methods - Structured interviews have been performed with persons consecutively admitted for their first rehabilitation intervention, meeting inclusion criteria. World Health Organization’s quality of life measure brief version and disability module served as guideline for the interviews. For study any negative effect on rehabilitation of our approach we have compared rehabilitation outcomes of consecutively admitted persons immediately before starting our study (58) and those with closed rehabilitation intervention (53). For this purpose the Functional Independence Measure was used. Finally content analysis of the interviews has been performed. Results - In 24 cases complications and psychological instability have prevented the inclusion, seven persons did not agree into participation in the study. Of the 71 interview participants the rehabilitation of 53 persons concluded. Their rehabilitation outcomes are better as of the control group significant difference has been measured in the social functions domain. Quality of life of included persons decreased during the rehabilitation process insignificantly, the autonomy domain showed insignificant improvement, the inclusion domain did not change. Content analysis revealed the outstanding role of the family among quality of life goals. Conclusions - Reported results indicate that exploration of quality of life goals of persons in early phase of rehabilitation after spinal cord injury is feasible. The selected quality of life measure may well support the interviews.]

Clinical Neuroscience

[Survey of adults with epilepsy in Hungary: health related quality of life and costs]

PÉNTEK Márta, BERECZKI Dániel, GULÁCSI László, MIKUDINA Boglárka, ARÁNYI Zsuzsanna, JUHOS Vera, BAJI Petra, BRODSZKY Valentin

[Background and purpose - Disease burden of epilepsy in Hungary is underexplored. The aim of our study was to assess the quality of life and costs of adults with epilepsy. Methods - Cross-sectional questionnaire survey was performed in two hospital based outpatient neurology centres involving consecutive patients with epilepsy. Demography, clinical characteristics, health status (EQ-5D) and health care utilisation in the past 12 months were surveyed. Cost calculation was performed from the societal perspective. Results - Altogether 100 patients (women 58%) were involved, their mean age was 37.6 (SD=12.5) years. Disease duration was 15.0 (SD=12.1) years on average and 22 (22%) patients were disability pensioners. The EQ- 5D score was mean 0.83 (SD=0.24) which is significantly lower than the age-matched population norm (p=0.017). Pain/discomfort and anxiety/depression are the most problematic health dimensions. The annual cost per patient was mean 2421 (SD=3249) Euros (679 397 SD=911 783 HUF; conversion: 1 Euro=280.6 HUF), distribution between direct medical, direct non-medical and indirect costs was 33%, 18% or 49%. Patients with seizure in the past 12 months have higher cost on avergare than the asymptomatic subsample (3119 vs. 988 Euros/patient/year; 935 481 vs. 277 209 HUF/patient/year). Conclusion - Adults with epilepsy have significantly worse health status by the EQ-5D than the gender and age matched Hungarian general population. Disease related costs are significant especially in cases with seizure, productivity loss related costs are dominant. Our study provides basic data for clinical and sustainable health care financing decisions.]

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Clinical Neuroscience

Role of positioning between trunk and pelvis in locomotor function of ambulant children with and without cerebral palsy


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Lege Artis Medicinae

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Clinical Neuroscience

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