Event-related potential features indexing central auditory discrimination by newborns.

Behavioral research has produced little evidence on sound feature discrimination in neonates. Sensory processes underlying sound perception can be studied using the mismatch negativity (MMN) component of auditory event-related potentials (ERPs), which is not contingent on conscious perception and response. Thus, MMN is suitable for studying newborns, who are difficult to obtain behavioral responses from. The present study thus utilized spectrally rich sounds, known to elicit the most replicable MMN in adults, to investigate newborns' preattentive analysis of sound duration and frequency changes. An attempt was also made to control for the obligatory ERP effects on the MMN. Three-partial harmonic tones were presented in Duration and in Frequency oddball conditions to 55 newborns. In the other two, Equiprobable duration and Equiprobable frequency, conditions frequency and duration deviants of the oddball paradigms were presented with equal probabilities among sounds of other durations and frequencies. MMN was elicited in 81% of newborns in Frequency oddball condition and in 78% of newborns in Duration oddball condition. No significant amplitude differences between the duration and frequency MMNs were found, but MMN latency was delayed in Duration condition. The obligatory components seemed to contribute significantly to the deviant-standard difference in Duration but not in Frequency condition. The majority of neonates appear to possess effective sound frequency and duration discrimination mechanisms. Their preattentive sound discrimination is facilitated by spectrally rich sound content. The present findings support a change-detection nature of MMN in neonates; however, sound duration-related obligatory effects need to be taken into account in infant MMN studies.

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.

Salla disease (MIM 269920) represents the mildest phenotype among recessively inherited lysosomal-free sialic acid storage disorders. Although the vast majority of Salla disease patients in Finland share the same founder mutation, R39C in the SLC17A5 gene, there still is a wide clinical variation among mentally retarded, ataxic patients. We evaluated neurologic and neurocognitive findings of Salla disease in a cross-sectional study of 41 Finnish patients who were 11 months to 63 years of age (median = 19.5 years). The phenotype of Salla disease could be classified into two main categories. The majority of patients (90%) had so-called conventional phenotype, including a subgroup of seven patients with relatively mild symptoms. All but two patients with conventional phenotype were homozygous for the Finnish founder mutation. Four severely disabled, profoundly mentally retarded patients, 15-28 years of age, clearly could be clinically delineated as a separate group, likely reflecting the underlying compound heterozygous genotype. A typical developmental pattern could be outlined in the conventional type of the disease, emphasizing a strong motor handicap in Salla disease. The cognitive profile consisted of better verbal ability, especially speech comprehension, compared with nonverbal functioning in all patients. Our results indicate a partial genotype-phenotype correlation, although factors other than the molecular background are also involved in the phenotypic manifestation of Salla disease.

Neonatal outcome of 58 infants exposed to maternal buprenorphine in utero.

AIM: To study the neonatal outcome of infants exposed to buprenorphine in utero. METHODS: We prospectively followed 54 buprenorphine-using pregnant women and their 58 infants. Urinary buprenorphine and norbuprenorphine concentrations in the mothers were measured prior to delivery, and in the infants during the first 3 days of life. The Finnegan score was used to evaluate neonatal abstinence syndrome. Other medical problems as well as social outcomes were recorded. RESULTS: All infants had buprenorphine in their urine. A total of 38 infants required 20 +/- 10 days (range 7-48 days) of morphine treatment for neonatal abstinence syndrome. The length of hospital stay for all infants was 25 +/- 19 days (range 3-125 days). The infants' highest urinary norbuprenorphine concentrations across their first 3 days of life correlated with the length of hospital stay and duration of morphine treatment (both p < 0.05). The mean birth weight and mean head circumference (n = 58) were below average (mean -0.7 standard deviation [SD] and mean -0.5 SD, respectively). Eleven infants were discharged home, 19 infants were placed in foster care and 28 infants were discharged with their mothers to Mother and Child homes or to other institutions. CONCLUSION: Maternal buprenorphine use at the time of birth may cause neonatal abstinence syndrome, requiring long-term hospitalization. Multiple social problems require a multidisciplinary team approach.

No improvement in outcome of nationwide extremely low birth weight infant populations between 1996-1997 and 1999-2000.

OBJECTIVE: Our goal was to investigate whether outcome in extremely low birth weight infants changes over time in Finland. PATIENTS AND METHODS: All infants with a birth weight <1000 g born in Finland in 1996-1997 and 1999-2000 were included in the study. Perinatal and follow-up data were collected in a national extremely low birth weight infant research register. Data concerning cerebral palsy and visual impairment were obtained from hospitals, the national discharge, and visual impairment registers. RESULTS: A total of 529 and 511 extremely low birth weight infants were born during 1996-1997 and 1999-2000. No changes were detected in prenatal, perinatal, neonatal, and postneonatal mortality rates between the periods. The survival rates including stillborn infants were 40% and 44%. The incidence of respiratory distress syndrome and septicemia increased from 1996-1997 to 1999-2000 (75% vs 83% and 23% vs 31%). The overall incidence of intraventricular hemorrhage increased (29% vs 37%), but the incidence of intraventricular hemorrhage grades 3 through 4 did not (16% vs 17%). The rates of oxygen dependency at the age corresponding with 36 gestational weeks, retinopathy of prematurity stages 3 to 5, cerebral palsy, and severe visual impairment did not change. Mortality remained higher in 1 university hospital area during both periods compared with the other 4 areas, but no regional differences in morbidity were detected during the later period. CONCLUSIONS: No significant changes were detected in birth or mortality rate in extremely low birth weight infants born in Finland during the late 1990s, but some neonatal morbidities seemed to increase. Regional differences in mortality were detected in both cohorts. Repeated long-term follow-up studies on geographically defined very preterm infant cohorts are needed for establishing reliable outcome data of current perinatal care. Regional differences warrant thorough audits to assess causalities.

Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.

AIM: Currently, the only metabolic disorder that newborns are screened for in Finland is congenital hypothyroidism. A proposal to start a pilot study on screening for other rare metabolic diseases using tandem mass spectrometry prompted a health technology assessment project on the effect and costs of expanded newborn screening programme options. METHOD: A modelling study using data from current published studies, healthcare registers and expert opinion. RESULTS: The annual running cost of screening 56,000 newborns for the chosen five disorders (congenital adrenal hyperplasia, medium-chain acyl-CoA dehydrogenase deficiency [MCADD], long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [LCHADD], phenylketonuria [PKU] and glutaric aciduria type 1 [GA 1]) was estimated to be euros 2.5 million or euros 45 per newborn when starting costs were included. The costs per quality-adjusted life year (QALY) gained are a maximum of euros 25,500. Prevention of severe handicap in one newborn would reduce the costs to a maximum of euros 18,000 per QALY gained. CONCLUSIONS: Expanding the Finnish neonatal screening programme would require a new organization. The cost-effectiveness, resources, ethics and equity need to be considered when deciding in favour of or against starting a new screening programme.

The auditory sensory memory trace decays rapidly in newborns.

The present study investigated the temporal dynamics of auditory sensory memory in newborns as reflected by the mismatch negativity (MMN), a preattentive electric change-detection response. MMN was obtained from 24 full-term healthy newborns who were either awake or asleep (quiet or active sleep) during the experiments. Stimuli were 1,000 Hz tones (standards) that were occasionally replaced by 1,100 Hz tones (deviants). The constant stimulus onset asynchrony (SOA) was, in separate blocks, either 450, 800, or 1,500 ms. A prominent MMN was obtained at the 800 ms SOA in all three sleep or waking states, whereas no MMN occurred at 450 and 1,500 ms SOAs. In view of the fact that in adults MMN is elicited even with a 10s SOA, these results imply that the time span of auditory memory is considerably shorter in neonates than in adults and 8-12-year-old children.

Natal and neonatal teeth in relation to environmental toxicants.

Infants born to mothers heavily exposed to polychlorinated biphenyls (PCBs) and dibenzofurans (PCDFs) have earlier been reported to have increased prevalences of natal and neonatal teeth. Some tendency toward higher prevalence figures of natal and neonatal teeth can be seen in the literature in normal child populations during the last 40 y. We therefore decided to determine the present prevalence of these teeth in a Finnish population and to evaluate whether infants with natal and neonatal teeth are more exposed to PCBs, PCDFs, and polychlorinated dibenzo-p-dioxins (PCDDs) than infants on average. A total of 34,457 infants born in 1997-2000 in four hospitals in southern Finland were examined for natal and neonatal teeth. The exposure of the infant to PCBs and PCDD/Fs was evaluated by measuring the levels of 17 most toxic PCDD/F and 36 PCB congeners in his or her mother's milk sample when the child was 4-8 wk old. A total of 34 infants had one or two natal (29 infants) or neonatal teeth (five infants). The milk analyses showed that the median level of PCDD/Fs as toxic equivalent (World Health Organization-recommended 2,3,7,8-tetrachlorodibenzo-p-dioxin equivalent quantity for PCDD/Fs in fat) was 11.9 pg/g in fat, and that of PCBs (World Health Organization-recommended 2,3,7,8-tetrachlorodibenzo-p-dioxin equivalent quantity for PCBs) was 7.24 pg/g in fat. These levels corresponded to the prevailing levels. The results showed that the prevalence of natal and neonatal teeth was 1:1000. No association was found between pollutant levels and occurrence of natal and neonatal teeth, indicating that the prevailing levels of PCDD/Fs and PCBs are likely to be below the threshold to cause perinatal eruption of teeth.