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Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida.

ABSTRACT: AIMS:In this study we analyzed the degree of genetic homozygosity among spina bifida patients with different degrees of neurogenic lesion (N = 82), as well as their clinical and neurological characteristics, compared to healthy control individuals (N = 100). METHODS:According to clinical and electromyographic findings, we separately assessed the type of neurogenic lesion (paresis or paralysis). Regarding the degree of neurogenic lesion, patients were classified into three groups: mild, moderate and severe. We analyzed six muscles. For assessing the degree of individual genetic homozygosity, we tested the presence and distribution of 15 homozygous recessive characteristics (HRC). RESULTS:The predominant type of neurogenic lesion was paresis. Every third evaluated muscle was affected in the group with mild neurogenic lesion, while more than half were affected in the group with severe neurogenic lesion. The average values of HRCs among different groups of patients and the control showed the population-genetic differences that exist among them (control HRC/15=3.0±0.2; mild HRC/15=3.6±0.2; moderate HRC/15=4.8±0.3; severe neurogenic lesion HRC/15=5.0±0.3). CONCLUSIONS:Spina bifida patients have a significant increase of recessive homozygosity and a decreased variability compared to the control group. As neurogenic lesions are more severe, more affected muscles are present, as well as the increase of individual recessive homozygosity.

SUBMITTER: Petronic I

PROVIDER: S-EPMC7151050 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida.

Petronic Ivana I Marinkovic Dragoslav D Nikolic Dejan D Cirovic Dragana D Golubovic Zoran Z Milanovic Filip F Cvjeticanin Suzana S

Healthcare (Basel, Switzerland) 20200324 1

<h4>Aims</h4>In this study we analyzed the degree of genetic homozygosity among spina bifida patients with different degrees of neurogenic lesion (<i>N</i> = 82), as well as their clinical and neurological characteristics, compared to healthy control individuals (<i>N</i> = 100).<h4>Methods</h4>According to clinical and electromyographic findings, we separately assessed the type of neurogenic lesion (paresis or paralysis). Regarding the degree of neurogenic lesion, patients were classified into ...[more]

PMID: 32214024

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Project description:BACKGROUND: Children with the severe form of spina bifida (SBM: spina bifida with myelomeningocele with accompanying hydrocephalus) may manifest attention deficits, and have a similar psychological profile to children with hydrocephalus due to other etiologies. It is unclear to what extent tests to assess attention in SBM are confounded by the accompanying cognitive or visual-motor impairments. The aim of this study was to analyse attention functions by administering two different types of attention tests, one with high and the other with low cognitive and motor requirements. This enabled the possible interaction between attention and cognitive and motor impairment to be assessed. METHODS: The study group comprised 31 children with SBM with shunted hydrocephalus. Twenty children with SB-only formed a closely matched comparison group. Of these, 19 children with SBM and 18 with SB had a full-scale IQ (FSIQ) higher than 70. All had undergone spinal surgery and all children with SBM had been shunted within the first months of life. Between 6 and 15 years of age, the children were assessed on focused and sustained attention, encoding, and distractibility/impulsivity, using both traditional tests and computerized attention tests. RESULTS: Compared to the SB group, attention scores of children with SBM were lower on the traditional tests, but when interfering cognitive and visual-motor requirements were eliminated using the computerised tasks, most differences disappeared. Furthermore, in contrast to traditional attention tasks, computerized tests showed no significant correlations with IQ-scores and visual-motor skills. CONCLUSION: Assessment of attention functions in children with SBM by traditional tests may be misleading, because this paediatric population with complex cerebral malformations has difficulty with the cognitive and visual-motor requirements. To control for these interactions, the use of both traditional and computerized attention tests is recommended.

Dataset Information

Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida.

Publications

Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida.

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