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Clinical Neuroscience

SEPTEMBER 30, 2019

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

SANZ-MENGIBAR Manuel Jose, SANTONJA-MEDINA Fernando

Purpose - To understand if children with and without cerebral palsy share the same lumbar postural control threshold on the sagittal plane for the transition between each walking locomotor stage. Method - Observational analysis of sagittal trunk-pelvis kinematics of 97 children with cerebral palsy and 73 with typical development, according to their locomotor stage. Results - Among children with typical development, all average and minimum measurements of the sagittal lumbar curve during the gait events were correlated with age and the locomotor stages of development. Among children with cerebral palsy, there were significant correlations between all average and minimum values of the sagittal lumbar curve and locomotor stages of development but not age. Conclusions - We conclude that, for the same locomotor level, there are no common postural patterns between children with typical development and those with spastic bilateral cerebral palsy for the position between trunk and pelvis in the sagittal plane. Maximal lordosis reduction between trunk and pelvis may change with age or even training, but does not make a positive effect on the locomotor level, while basal and maintenance capacities could explain locomotor function. Trials that failed to assess quality of movement may now have a better understanding of how different interventions improve posture towards the next functional level.

Clinical Neuroscience

MARCH 30, 2017

[Multilocus genetic analysis implicates neurodevelopment and immune system in the etiology of schizophrenia]

PULAY Attila József, KOLLER Júlia, NAGY László, MOLNÁR Mária Judit, RÉTHELYI János

[Background - Schizophrenia is a severe psychiatric disorder of poorly understood etiology, characterized by high heritability, multifactorial inheritance and high heterogeneity. Multilocus associaton methods may reduce the genetic heterogeneity and improve the probability of replication between analyses. Objectives - The aims of our study were twofold: 1. To analyse genetic risk factors of schizophrenia by using multilocus genetic tests. 2. To assess the replication probability attributable to the various multilocus tests. Subjects - Discovery set: case-parent trios of unaffected parents and affected probands with a DSM-IV schizophrenia diagnosis (n=16); replication set: schizophrenia cases and unaffected controls (n=5337). Methods - Associations of single nucleotide and indel markers were transferred to gene- and geneset-based associations, furthermore to geneset-enrichment tests and functional annotation cluster analyses in a two-staged designs. Associations with p<0.1 from the discovery set were tested in the replication sample. Familywise p-value correction for multiple comparisons were performed during the replication step. Results - After correction for multiplicity, no significant association or enrichment were detected for gene-based nor canonical pathway analyses, but significant association of the 14q31 cytoband and enrichments of the 5q31 and Xq13 cytobands were found (p_corr: 0.002, 0.006 and 0.048, respectively). Functional annotation clustering yielded statistically significant enrichment scores for clusters of splicing/alternative splicing, neurodevelopment and embryonic development. Improvements in replication probabilty were found with increased test complexity (P_rep: 0, 0.015, 0.21). Conclusions - Our results corroborate the involvement of neurodevelopment, synaptic plasticity and immune mechanisms in the etiology of schizophrenia. Also, our findings indicated improvement of replication probability by using multilocus genetic analyses. ]

Clinical Neuroscience

JULY 30, 2013

[Minor physical anomalies in autism]

TÉNYI Tamás, JEGES Sára, HALMAI Tamás, CSÁBI Györgyi

[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.]