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| 2. |
- Fellman, Vineta, et al.
(författare)
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Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
- 2008
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Ingår i: Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1434-5161 .- 1435-232X. ; 53:6, s. 554-558
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Tidskriftsartikel (refereegranskat)abstract
- The BCS1L gene encodes a chaperone responsible for assembly of respiratory chain complex III (CIII). A homozygous point mutation (232A -> G) has been found as the genetic etiology for fetal growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (GRACILE) syndrome (MIM 603358). Variable phenotypes have been found with other mutations. Our aim was to assess whether 232A -> G or other BCS1L mutations were present in infants (n = 21) of Finnish origin with severe, lethal disease compatible with mitochondrial disorder. A further aim was to confirm the GRACILE genotype-phenotype constancy (n = 8). Three new cases with homozygous 232A -> G mutation were identified; all had the primary GRACILE characteristics. No other mutations were found in the gene in other cases. All infants with GRACILE syndrome had the typical mutation. In conclusion, the rather homogenous population of Finns seems to have a specific BCS1L mutation that, as homozygous state, causes GRACILE syndrome, whereas other mutations are rare or not occurring. Thus, the novel clinical implication of this study is to screen for BCS1L mutations only if CIII is dysfunctioning or lacking Rieske protein, and to assess 232A -> G mutation in cases with GRACILE syndrome.
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| 3. |
- Korkman, Marit, et al.
(författare)
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Neurocognitive test profiles of extremely low birth weight five-year-old children differ according to neuromotor status
- 2008
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Ingår i: Developmental Neuropsychology. - : Informa UK Limited. - 8756-5641 .- 1532-6942. ; 33:5, s. 637-655
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Tidskriftsartikel (refereegranskat)abstract
- The neurocognitive outcome of children born with extremely low birth weight (ELBW) is highly variable due to the complexity of morbidity. So far, no study has compared comprehensive neuropsychological test profiles in groups with different neuromotor status. In a national cohort of ELBW children neuropsychological test profiles were assessed in 4 groups defined according to a neurological examination at 5 years of age: normal neuromotor status (N = 56). motor coordination problems (N = 32), Multiple Subtle neuromotor signs including, both motor coordination problems and deviant reflexes (N = 20), and spastic diplegia (N = 12). The neurocognitive assessment included a test of intelligence. the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R) and 14 subtests of attention and executive functions, verbal functions, Manual motor functions, visuoconstructional functions and verbal learning (NEPSY). The children with normal neuromotor status performed within the average range: children with motor coordination problems had widespread impairment and children with spastic diplegia and children with multiple minor neuromotor(Or Signs had uneven test profiles with stronger verbal results but weaknesses in attention and executive functions, and in manual motor and visuoconstructional tasks. In conclusion, very preterm children with neuromotor signs, including motor coordination problems, are at risk for neurocognitive impairment. in spite of average intelligence. More impaired children have more irregular test profiles. Follow-up and neuropsychological assessment of very preterm children with minor neuromotor signs are therefore indicated.
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| 4. |
- Norman, Elisabeth, et al.
(författare)
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Electroencephalographic response to procedural pain in healthy term newborn infants
- 2008
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Ingår i: Pediatric Research. - 0031-3998 .- 1530-0447. ; 64:4, s. 429-34
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Tidskriftsartikel (refereegranskat)abstract
- The current study aimed to characterize changes in EEG-related measures after noxious stimuli in neonates, and to assess their potential utility as measures of pain and/or discomfort during neonatal intensive care.Seventy-two healthy term infants were investigated: Twenty-eight had a non skin-breaking pin-prick on the heel, randomized to receive either oral glucose (n=16) or water (n=12) before the stimulus. 21 infants were studied during a venous blood sample from the dorsum of the hand, 23 infants during a capillary heel stick. Behavioral pain responses were assessed with the Premature Infant Pain Profile (PIPP) scale. The stimulus evoked a significant increase in higher frequency components (10-30Hz) which also correlated to behavioral measures. The frontotemporal localization of the increased activity with frequency bands similar to electromuscular artifacts and the relation to behavioral measures confirmed that this activity corresponds to an increase in muscle tone. There was no change in frontal EEG asymmetry in any of the groups. The present results indicate that responses in cortical activity recorded by EEG are not useful for clinical assessment of infants' responses to noxious stimuli.
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| 5. |
- Pupp, Ingrid, et al.
(författare)
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Inflammation at Birth is associated with Subnormal Development in Very Preterm Infants.
- 2008
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Ingår i: Pediatric Research. - 1530-0447. ; 64, s. 183-188
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Tidskriftsartikel (refereegranskat)abstract
- Preterm birth carries a risk for impaired developmental outcome. We have previously described an association between increased levels of pro-inflammatory cytokines during the first 72 postnatal hours and cerebral damage as detected by ultrasound in a cohort of 74 very preterm infants. Sixty-seven of 71 surviving children with a mean (SD) GA of 27.1 (2.0) weeks were examined at 2 years corrected age with a standardized neurological examination and with Bayley Scales of Infant Development. We hypothesized that pro-inflammatory cytokine concentrations at or shortly after birth would be associated with an adverse developmental outcome. Increased concentrations of TNF-alpha in cord blood OR (95% CI) 3.3 (1.1-10.2), p=0.013 and at 6 h 7.8 (0.9-71.8), p=0.015 and of IL-6 in cord blood 1.7 (1.0-2.9), p=0.048 were associated with psychomotor developmental index <85. Increased concentrations of TNF-alpha in cord blood OR (95% CI) 3.6 (1.002-12.8), p=0.044 and of IL-8 in cord blood 3.5 (1.2-10.6), p=0.023 were associated with cerebral palsy. Associations of TNF-alpha and IL-8 in cord blood with the respective outcome measures remained significant after adjustment for other clinical variables. Pro-inflammation at birth is associated with impaired functional outcome at 2 years of corrected age in children with very preterm birth.
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| 6. |
- Sambeth, Anke, et al.
(författare)
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Sleeping newborns extract prosody from continuous speech
- 2008
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Ingår i: Clinical Neurophysiology. - : Elsevier BV. - 1872-8952 .- 1388-2457. ; 119:2, s. 332-341
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Behavioral experiments show that infants use both prosodic and statistical cues in acquiring language. However, it is not yet clear whether these prosodic and statistical tools are already present at birth. Methods: We recorded brain responses of sleeping newborns to natural sounds rich in prosody, namely singing and continuous speech, and to two impoverished manipulations of speech. A total of 11 newborns were presented with continuous speech, singing, and degraded speech, while MEG was recorded. Results: We found that a brain response elicited to the prosodically rich singing and continuous natural speech conditions decreased dramatically when the prosody in the speech was impoverished. Conclusions: We claim that this response is the indicator of the infants' sensitivity to prosodic cues in language, which is already present at birth during natural sleep. Significance: The indicators of detection of prosody may be crucial in assessing the normal and abnormal cortical function in newborns, especially of those infants at-risk for language problems.
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