Marita Valkama

Neurophysiologic correlates of deficient phonological representations and object naming in prematurely born children.

OBJECTIVE The aim of this follow-up study was to evaluate the development of object naming ability and auditory processing in prematurely born children. Furthermore, we investigated whether the mismatch negativity (MMN) parameters at the age of 4 years correlate with the MMN parameters and naming ability at the age of 6 years. METHODS Twelve very low birth weight (VLBW) preterm children (mean age 5 years 7 months) and matched controls were studied. Object naming was measured by the Boston naming test. Auditory event-related potentials (ERPs), especially the MMN, were recorded for Finnish syllables (standard /taa/; deviants /ta/ and /kaa/) in an oddball paradigm. RESULTS VLBW preterm children scored significantly lower in the object naming test than their controls. The MMN amplitude for consonant change was significantly smaller in the preterm group compared to the controls. The MMN amplitude at the age of 4 years correlated with the MMN amplitude at the age of 6 years. Furthermore, absence of the MMN at the age of 4 years predicted naming difficulties at the age of 6 years. CONCLUSIONS VLBW preterm children with a difficulty to preattentively discriminate changes in syllables, as indexed by the diminished change detection response, MMN, seem to have sustained naming difficulty. Therefore, it is reasonable to record the MMN along with the language development from infancy, in order to identify the children at risk for language deficiencies and to provide appropriate rehabilitation.

Deficient speech-sound processing, as shown by the electrophysiologic brain mismatch negativity response, and naming ability in prematurely born children

Very low birth weight (VLBW, <1500 g) preterm birth has been associated with anatomic abnormalities in brain development and cognitive and language disorders. We examined object naming ability, and an electrophysiologic index of auditory sensory discrimination of speech sounds (the mismatch negativity, MMN) in 4-year-old VLBW prematurely born children. We found that half of the VLBW children were inferior to their controls in the object naming ability. Also the MMN amplitudes were smaller in the preterm group as compared with the controls. Further, the MMN amplitude varied as a function of childrens performance on object naming, such that the weaker object-naming performance of the preterm group was paralleled by the diminished MMN amplitudes. Therefore, difficulties in auditory discrimination seem to be implicated in language difficulties encountered in VLBW prematurely born children.

Is Prematurity Associated With Adult Cognitive Outcome and Brain Structure

Previous studies have indicated that preterm birth and low birth weight are associated with structural brain abnormalities and neurocognitive deficits in childhood and adolescence, although very few studies have included follow-up in adulthood. Here we assessed the effect of preterm delivery (524 subjects; mean 34.6 weeks, S.D. = 1.7) or low birth weight (366 subjects; mean 2159 g, S.D. = 303) on educational and occupational outcomes at age 31 years in the Northern Finland 1966 Birth Cohort, along with 10,132 term, normal birth weight control subjects. Cognitive tests and brain morphology using magnetic resonance imaging were assessed at age 33-35 years in a subset of the cohort (9 subjects; 95 controls). The preterm or low birth weight subjects had slightly lower school ratings and lower educational levels in adulthood, and they performed worse in verbal learning. The low birth weight subjects were less likely to be employed. There were no mean differences in the magnetic resonance imaging tissue segmentation analysis of the brain. In conclusion, although there were no overall changes in brain morphology in the preterm or low birth weight group, there was evidence for slightly poorer educational and occupational careers and cognitive capacity, which may reflect functional disruption not evident in structure.

3-D analysis of facial asymmetry in children with hip dysplasia.

OBJECTIVE To determine whether facial asymmetry existed in patients with developmental dysplasia of the hip (DDH). MATERIALS AND METHODS Subjects consisted of children between ages 5 and 10 years having DDH, and treated by the Von Rosen splint method. Three-dimensional (3-D) facial photographs were taken on all subjects using the 3dMDface system. Using RF6 PP2 software, anthropometric landmarks were plotted and used to calculate asymmetry based on 3-D coordinates in a reference framework. RESULTS Of a total of 60 subjects with a mean age of 8 years (SD, 1.4 years), 30 had dysplasia of the left hip; 13, of the right; and 17 were bilateral. Twenty-seven subjects had upper face (UF) dominance values of 2 mm or more; of those, 26 were right-side dominant. Twenty-four subjects (40%) had a chin-point (CP) deviation of 2 mm or more; of those, 21 had right-side deviations. Statistically, UF and CP deviations were not significantly independent of each other (P > .05). Thirty percent of subjects had a posterior dental crossbite. CONCLUSIONS The results indicate that facial asymmetry exists in patients with DDH.

Occlusal asymmetries in children with congenital hip dislocation

Developmental dysplasia of the hip (DDH) has been associated with other congenital postural deformities and associated with asymmetric features in the body. The aim of this study was to examine the associations between developmental DDH and malocclusions in preschool and school children. The subjects were 60 children (40 girls and 20 boys) born during 1997-2001 in Northern Ostrobothnia Hospital District and having developmental DDH and treated by Von Rosen method. The control group consisted of 71 Finnish children (46 girls and 25 boys) matched by age and gender. Children participated the cross-sectional study at the age of 5-10 years; the mean age of the DDH children was 8.0 (SD 1.4) and controls 7.9 (SD 1.4) years. Dental examinations, intra-oral photographs, and clinical examination including growth measurements were carried out. The DDH children had significantly more lateral crossbites than controls (30/9.9 per cent; P < 0.003). Overall, 77.8 per cent of cases were unilateral crossbites and found more on the right side (50 per cent) compared to the left side (22.2 per cent). Girls had more crossbite compared to boys (77.8/22.2 per cent; odds ratio 2.53). Children with congenital hip dislocation are more predisposed to the asymmetric growth of occlusion and the development of crossbite. The genetic and environmental factors including intrauterine conditions in addition to the splint therapy may be possible influencing factors. This study will give additional information of the development of occlusal asymmetries and the multifactorial nature of the aetiology of lateral malocclusions.

Event-Related Potentials Reflect Deficits in Lexical Access: The N200 in Prematurely Born School-Aged Children

Objectives: Children born preterm have a high prevalence of neurocognitive deficits early in life. We examined whether the neural correlates of lexical access are atypical in 9-year-old children born preterm, and whether the findings of acoustic mapping correlate with language- and attention-related skills. Patients and Methods: The subjects were fourteen 9-year-old children born preterm and 14 full-term, typically developing controls. Two auditory event-related potential (ERP) components, the N200 and the N400, were used to assess discrimination response and word recognition. A set of behavioral tests (naming ability, auditory attention, phonological processing, pseudoword repetition, and comprehension of instructions) was performed, and the results were compared with the amplitudes, latencies, and scalp distribution of the ERP results. Results: In prematurely born children, neurophysiological deficits were associated with difficulties in auditory discrimination. The N200 amplitude correlated significantly with auditory attention and pseudoword repetition. The scalp distribution of both the N200 and the N400 was broader in children born preterm than in the controls. Low scores in the neuropsychological tasks referred to difficulties in auditory processing and memory. Conclusions: Children born preterm have difficulties in lexical access together with memory- and attention-related processes, which may have a longstanding impact on their school outcomes and academic skills.

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss

Mutations in GLE1, RNA export mediator (GLE1) gene have previously been shown to cause motor neuron diseases such as lethal congenital contracture syndrome 1 (LCCS1) and lethal arthrogryposis with anterior horn cell disease (LAAHD), including arthrogryposis, fetal akinesis and motor neuron loss as common clinical features. The homozygous FinMajor mutation p.T144_E145insPFQ has been described as one of the causes for LCCS1 whereas LAAHD is caused by a heterocompound FinMajor mutation together with p.R569H, p.V617M or p.I684T missense mutation. None of these heterocompound missense mutations have previously been reported as homozygous states. Here we present the clinical features of 2 siblings with a homozygous p.I684T mutation in GLE1. The patients suffered from similar, but milder symptoms than in LCCS1 and LAAHD, surviving up to 6 months before they died due to a progressive disease course including respiratory failure. Arthrogryposis, lack of spontaneous movements, and epilepsy were notable in both cases and lack of anterior horn cells was identified in autopsy samples. Our studies on patient‐derived fibroblasts show that the homozygous p.I684T impairs the nuclear localization of GLE1 further confirming the pathogenic role of this mutation.

Early introduction of solid foods and the low prevalence of food allergy and atopic eczema among preterm children during the first year of life

Methods We aimed to study early nutrition, FA and AD in a retrospective study. All the preterm infants (<37 gestational weeks) born and having been regularly followed up at the Department of Pediatrics, Oulu University Hospital during the years 2008-2012 are included. 383 preterm infants were identified from the hospital patient registry. Followup data from outpatient clinic visits until the age of 1 year was available in 31/157 (20%) of preterm (33-37 gestational weeks), 136/177 (77%) of very preterm (28-32 gestational weeks) and 42/49 (86%) of extremely preterm (<28 gestational weeks) infants, and these 209 children were included in the analyses. The frequencies of FA and AD were compared to our survey on infants from the general population.