| 1. |
- Cizmeci, Mehmet N, et al.
(författare)
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Randomized Controlled Early versus Late Ventricular Intervention Study in Posthemorrhagic Ventricular Dilatation : Outcome at 2 Years
- 2020
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Ingår i: Journal of Pediatrics. - : Elsevier BV. - 1097-6833 .- 0022-3476. ; 226, s. 3-35
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To compare the effect of intervention at low vs high threshold of ventriculomegaly in preterm infants with posthemorrhagic ventricular dilatation on death or severe neurodevelopmental disability.STUDY DESIGN: This multicenter randomized controlled trial reviewed lumbar punctures initiated after either a low threshold (ventricular index of >p97 and anterior horn width of >6 mm) or high threshold (ventricular index of >p97 + 4 mm and anterior horn width of >10 mm). The composite adverse outcome was defined as death or cerebral palsy or Bayley composite cognitive/motor scores <-2 SDs at 24 months corrected age.RESULTS: Outcomes were assessed in 113 of 126 infants. The composite adverse outcome was seen in 20 of 58 infants (35%) in the low threshold group and 28 of 55 (51%) in the high threshold (P = .07). The low threshold intervention was associated with a decreased risk of an adverse outcome after correcting for gestational age, severity of intraventricular hemorrhage, and cerebellar hemorrhage (aOR, 0.24; 95% CI, 0.07-0.87; P = .03). Infants with a favorable outcome had a smaller fronto-occipital horn ratio (crude mean difference, -0.06; 95% CI, -0.09 to -0.03; P < .001) at term-equivalent age. Infants in the low threshold group with a ventriculoperitoneal shunt, had cognitive and motor scores similar to those without (P = .3 for both), whereas in the high threshold group those with a ventriculoperitoneal shunt had significantly lower scores than those without a ventriculoperitoneal shunt (P = .01 and P = .004, respectively).CONCLUSIONS: In a post hoc analysis, earlier intervention was associated with a lower odds of death or severe neurodevelopmental disability in preterm infants with progressive posthemorrhagic ventricular dilatation.TRIAL REGISTRATION: ISRCTN43171322.
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| 2. |
- Fellman, Vineta, et al.
(författare)
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Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1
- 2022
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Ingår i: Biochimica et Biophysica Acta - Molecular Basis of Disease. - : Elsevier BV. - 0925-4439. ; 1868:1
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Tidskriftsartikel (refereegranskat)abstract
- In the diagnostic work-up of a newborn infant with a metabolic crisis, lethal multiorgan failure on day six of life, and increased excretion of 3-methylglutaconic acid, we found using whole genome sequencing a homozygous SERAC1 mutation indicating MEGDHEL syndrome (3-methylglutaconic aciduria with deafness-dystonia, hepatopathy, encephalopathy, and Leigh-like syndrome). The SERAC1 protein is located at the contact site between mitochondria and the endoplasmic reticulum (ER) and is crucial for cholesterol trafficking. Our aim was to investigate the effect of the homozygous truncating mutation on mitochondrial structure and function. In the patient fibroblasts, no SERAC1 protein was detected, the mitochondrial network was severely fragmented, and the cristae morphology was altered. Filipin staining showed uneven localization of unesterified cholesterol. The calcium buffer function between cytoplasm and mitochondria was deficient. In liver mitochondria, complexes I, III, and IV were clearly decreased. In transfected COS-1 cells the mutant protein with the a 45-amino acid C-terminal truncation was distributed throughout the cell, whereas wild-type SERAC1 partially colocalized with the mitochondrial marker MT-CO1. The structural and functional mitochondrial abnormalities, caused by the loss of SERAC1, suggest that the crucial disease mechanism is disrupted interplay between the ER and mitochondria leading to decreased influx of calcium to mitochondria and secondary respiratory chain deficiency.
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| 3. |
- Haavisto, Anu, et al.
(författare)
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Latent class growth analysis identified different trajectories in cognitive development of extremely low birthweight children
- 2022
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Ingår i: BMJ Paediatrics Open. - : BMJ. - 2399-9772. ; 6:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Recent longitudinal studies suggest stable cognitive development in preterm children, although with great individual variation. This prospective neurocognitive follow-up study of extremely low birthweight (ELBW, <1000 g) children aimed to characterise groups with different developmental trajectories from preschool to preteen age. Methods ELBW children (n=115) born in Finland in 1996-1997 participated in cognitive assessments at a median age of 5.0 years and 11.3 years. A standardised test of intelligence (Wechsler Preschool and Primary Scale of Intelligence-Revised or Wechsler Intelligence Scale for Children-third edition) was administered at both ages. Results Three ELBW groups with different developmental trajectories over time were identified with latent class growth analysis. Children with average (Full-Scale IQ (FSIQ): 85-115) and below average (FSIQ: <85) intelligence at 5 years of age had significant decreases in intelligence scores by 11 years of age (-11.7 points and -14.9 points, respectively, both p<0.001), while those with above average intelligence (FSIQ: >115) showed stable development (-3.2 points, p=0.250). Multiple linear regression showed that neonatal complications (intraventricular haemorrhage grade 3-4 and blood culture positive sepsis) and maternal education significantly predicted lower intelligence at the second assessment (F(3,106)=7.27, p<0.001, adjusted R 2 =0.147). Conclusions ELBW children represent a heterogeneous patient population in which groups with different cognitive trajectories can be detected. Deterioration may occur particularly in children with initial average or below average cognitive performance at 5 years of age, with neonatal complications and lower maternal education presenting as risk factors. Catch-up in cognitive functions seems more uncommon in the ELBW population, which should be noted in clinical work.
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| 4. |
- Hikmat, O., et al.
(författare)
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Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
- 2021
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Ingår i: Annals of Clinical and Translational Neurology. - : Wiley. - 2328-9503. ; 8:11, s. 2155-2165
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype-phenotype correlations and identify reliable prognostic disease markers. Methods: We performed a retrospective multinational cohort study of previously unpublished patients followed in 15 centres from 10 countries. Patients with confirmed biallelic pathogenic BCS1L variants were considered eligible. Clinical, laboratory, neuroimaging and genetic data were analysed. Patients were stratified into different groups based on the age of disease onset, whether homozygous or compound heterozygous for the c.232A>G (p.Ser78Gly) variant, and those with other pathogenic BCS1L variants. Results: Thirty-three patients were included. We found that growth failure, lactic acidosis, tubulopathy, hepatopathy and early death were more frequent in those with disease onset within the first month of life. In those with onset after 1 month, neurological features including movement disorders and seizures were more frequent. Novel phenotypes, particularly involving movement disorder, were identified in this group. The presence of the c.232A>G (p.Ser78Gly) variant was associated with significantly worse survival and exclusively found in those with disease onset within the first month of life, whilst other pathogenic BCS1L variants were more frequent in those with later symptom onset. Interpretation: The phenotypic spectrum of BCS1L-related disease comprises a continuum of clinical features rather than a set of separate syndromic clinical identities. Age of onset defines BCS1L-related disease clinically and early presentation is associated with poor prognosis. Genotype correlates with phenotype in the presence of the c.232A>G (p.Ser78Gly) variant.
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| 5. |
- Högberg, Ulf, 1949-, et al.
(författare)
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Difficult birth is the main contributor to birthrelated fracture and accidents to other neonatal fractures
- 2020
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Ingår i: Acta Paediatrica. - : John Wiley & Sons. - 0803-5253 .- 1651-2227. ; 109:10, s. 2040-2048
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Tidskriftsartikel (refereegranskat)abstract
- AIM: Specific birthrelated fractures have been studied; underestimates might be a problem. We aimed to assess all fractures diagnosed as birthrelated as well as other neonatal fractures.METHODS: A population-based study on all infants born in Sweden 1997-2014; data was retrieved from the Swedish Health Registers (10th version of International Classification of Diseases. Outcome measures were birthrelated fractures (ICD-10 P-codes) and other neonatal fractures (ICD-10 S-codes).RESULTS: The overall fracture incidence was 2.9 per 1,000 live birth (N=5,336); 92.6% had P-codes and 7.4% (S-codes). Some birthrelated fractures were diagnosed beyond the neonatal period. Other neonatal fractures could have been birthrelated. Clavicle fracture, (88.8%) was associated with adverse maternal- and infant anthropometrics and birth complications. The few neonates with rib fractures all had concomitant clavicle fracture. For skull fractures, a minor part was birthrelated, most were associated with accidents. Half of the long bone fractures were associated with accidents. Birthrelated femur fractures were associated with bone fragility risk factors. Five infants with abuse diagnoses had fractures: skull (4), long bone (2), and rib (1).CONCLUSION: Birthrelated and other neonatal fractures are rarely diagnosed. Difficult birth is the main contributor to birthrelated fracture, and accidents to other neonatal fractures.
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| 6. |
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| 7. |
- Kostilainen, Kaisamari, et al.
(författare)
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Neural processing of changes in phonetic and emotional speech sounds and tones in preterm infants at term age
- 2020
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Ingår i: International Journal of Psychophysiology. - : Elsevier BV. - 0167-8760. ; 148, s. 111-118
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Auditory change-detection responses provide information on sound discrimination and memory skills in infants. We examined both the automatic change-detection process and the processing of emotional information content in speech in preterm infants in comparison to full-term infants at term age. Methods: Preterm (n = 21) and full-term infants' (n = 20) event-related potentials (ERP) were recorded at term age. A challenging multi-feature mismatch negativity (MMN) paradigm with phonetic deviants and rare emotional speech sounds (happy, sad, angry), and a simple one-deviant oddball paradigm with pure tones were used. Results: Positive mismatch responses (MMR) were found to the emotional sounds and some of the phonetic deviants in preterm and full-term infants in the multi-feature MMN paradigm. Additionally, late positive MMRs to the phonetic deviants were elicited in the preterm group. However, no group differences to speech-sound changes were discovered. In the oddball paradigm, preterm infants had positive MMRs to the deviant change in all latency windows. Responses to non-speech sounds were larger in preterm infants in the second latency window, as well as in the first latency window at the left hemisphere electrodes (F3, C3). Conclusions: No significant group-level differences were discovered in the neural processing of speech sounds between preterm and full-term infants at term age. Change-detection of non-speech sounds, however, may be enhanced in preterm infants at term age. Significance: Auditory processing of speech sounds in healthy preterm infants showed similarities to full-term infants at term age. Large individual variations within the groups may reflect some underlying differences that call for further studies.
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| 8. |
- Kostilainen, Kaisamari, et al.
(författare)
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Repeated Parental Singing During Kangaroo Care Improved Neural Processing of Speech Sound Changes in Preterm Infants at Term Age
- 2021
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Ingår i: Frontiers in Neuroscience. - : Frontiers Media SA. - 1662-4548 .- 1662-453X. ; 15
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Tidskriftsartikel (refereegranskat)abstract
- Preterm birth carries a risk for adverse neurodevelopment. Cognitive dysfunctions, such as language disorders may manifest as atypical sound discrimination already in early infancy. As infant-directed singing has been shown to enhance language acquisition in infants, we examined whether parental singing during skin-to-skin care (kangaroo care) improves speech sound discrimination in preterm infants. Forty-five preterm infants born between 26 and 33 gestational weeks (GW) and their parents participated in this cluster-randomized controlled trial (ClinicalTrials ID IRB00003181SK). In both groups, parents conducted kangaroo care during 33–40 GW. In the singing intervention group (n = 24), a certified music therapist guided parents to sing or hum during daily kangaroo care. In the control group (n = 21), parents conducted standard kangaroo care and were not instructed to use their voices. Parents in both groups reported the duration of daily intervention. Auditory event-related potentials were recorded with electroencephalogram at term age using a multi-feature paradigm consisting of phonetic and emotional speech sound changes and a one-deviant oddball paradigm with pure tones. In the multi-feature paradigm, prominent mismatch responses (MMR) were elicited to the emotional sounds and many of the phonetic deviants in the singing intervention group and in the control group to some of the emotional and phonetic deviants. A group difference was found as the MMRs were larger in the singing intervention group, mainly due to larger MMRs being elicited to the emotional sounds, especially in females. The overall duration of the singing intervention (range 15–63 days) was positively associated with the MMR amplitudes for both phonetic and emotional stimuli in both sexes, unlike the daily singing time (range 8–120 min/day). In the oddball paradigm, MMRs for the non-speech sounds were elicited in both groups and no group differences nor connections between the singing time and the response amplitudes were found. These results imply that repeated parental singing during kangaroo care improved auditory discrimination of phonetic and emotional speech sounds in preterm infants at term age. Regular singing routines can be recommended for parents to promote the development of the auditory system and auditory processing of speech sounds in preterm infants.
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| 9. |
- Mohlkert, Lilly-Ann, et al.
(författare)
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Right Heart Structure, Geometry and Function Assessed by Echocardiography in 6-Year-Old Children Born Extremely Preterm-A Population-Based Cohort Study
- 2021
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Ingår i: Journal of Clinical Medicine. - : MDPI. - 2077-0383. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Preterm birth has been associated with altered cardiac phenotype in adults. Our aim was to test the hypothesis that children surviving extremely preterm birth have important structural or functional changes of the right heart or pulmonary circulation. We also examined relations between birth size, gestational age, neonatal diagnoses of bronchopulmonary dysplasia (BPD) and patent ductus arteriosus (PDA) with cardiac outcomes. We assessed a population-based cohort of children born in Sweden before 27 weeks of gestation with echocardiography at 6.5 years of age (n = 176). Each preterm child was matched to a healthy control child born at term. Children born preterm had significantly smaller right atria, right ventricles with smaller widths, higher relative wall thickness and higher estimated pulmonary vascular resistance (PVR) than controls. In preterm children, PVR and right ventricular myocardial performance index (RVmpi') were significantly higher in those with a PDA as neonates than in those without PDA, but no such associations were found with BPD. In conclusion, children born extremely preterm exhibit higher estimated PVR, altered right heart structure and function compared with children born at term.
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| 10. |
- Partanen, Eino, et al.
(författare)
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Auditory processing of the brain is enhanced by parental singing for preterm infants
- 2022
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Ingår i: Frontiers in Neuroscience. - : Frontiers Media SA. - 1662-4548 .- 1662-453X. ; 16, s. 772008-
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Tidskriftsartikel (refereegranskat)abstract
- As the human auditory system is highly malleable in infancy, perinatal risk factors, such as preterm birth, may affect auditory development. In comparison to healthy full-term infants, preterm infants show abnormal auditory brain responses at term age, which may have long-term detrimental outcomes. To achieve an optimal neonatal care environment for preterm-born infants, many early interventions have been developed. Musical interventions developed for neonatal intensive care units (NICUs) have shown beneficial effects on vital functions and weight gain of preterm infants and might also influence basic auditory processing and thereby enhance outcomes. In the present study, we tested the effect of parental singing during kangaroo care on auditory processing of standardized audio stimuli. Preterm infants (born between 24 and 32 weeks of gestation) were randomized to singing intervention (n = 13) or control (n = 8) groups. The auditory processing was tested using two audio paradigms assessed with magnetoencephalography (MEG) at term corresponding age. To verify that the paradigms elicit responses in MEG, we studied 12 healthy full-term infants. In the singing intervention group, parents were instructed by a music therapist twice a week for 4 weeks to sing or hum during kangaroo care in an infant-directed way. The control group received standard kangaroo care. The results show that the infants in the singing intervention group show larger neural responses than those in the control group when controlling for the total amount of singing during kangaroo care. Our findings suggest that incorporating singing into kangaroo care may be beneficial for preterm infants, but the effect may not be due to exposure to singing but instead positive parenting, improved parental self-esteem and improved caregiver sensitivity.
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