Hukuksiin joutuneen lapsen ensivaiheen hoito ja neurologinen ennuste

•Hukkumistapaturman aikana kehittyy hypoksis-iskeeminen aivovaurio, eikä syntyneeseen vaurioon voi ­juurikaan vaikuttaa myöhemmin. •Elvytyksessä tärkeää on lisävaurion ehkäiseminen, happivajeen korjaaminen ja riittävän aivoperfuusion ­ylläpitäminen. •Ennusteen kannalta merkittävin asia on aivojen hapenpuutteen kesto eli hukuksissaoloaika. •Ennusteen arvioinnissa käytetään neurologisen tutkimuksen lisäksi aivojen magneettikuvausta, EEG-tutkimusta sekä somatosensorisia herätevasteita. •Neurologinen status sairaalasta kotiutettaessa ei kuvaa riittävästi myöhempää ennustetta, vaan tarvitaan neurologista ja neurokognitiivista pitkäaikaisseurantaa.Peer reviewe

Veltto imeväinen

English summaryPeer reviewe

Seasonal changes, sleep length and circadian preference among twins with bipolar disorder

BACKGROUND: We aimed at studying the seasonal changes in mood and behaviour, the distribution of hospital admissions by season, and the persistence of the circadian type in twins with bipolar disorder and their healthy co-twins. METHODS: All Finnish like-sex twins born from 1940 to 1969 were screened for a diagnosis of bipolar type I disorder. The diagnosis was assessed with a structured research interview, and the study subjects (n = 67) filled in the Seasonal Pattern Assessment Questionnaire (SPAQ) and the Morningness-Eveningness Questionnaire (MEQ). For studying the persistence of the habitual sleep length and circadian type, we used data derived from the Finnish Twin Cohort Questionnaire (FTCQ). Bipolar twins were compared with their healthy co-twins. RESULTS: Bipolar twins had greater seasonal changes in sleep length (p = 0.01) and mood (p = 0.01), and higher global seasonality scores (p = 0.03) as compared with their co-twins with no mental disorder. Sunny days (p = 0.03) had a greater positive effect on wellbeing in the bipolar than healthy co-twins. CONCLUSIONS: Our results support the view that bipolar disorder is sensitive to the environmental influence in general and to the seasonal effect in specific. Exposure to natural light appears to have a substantial effect on wellbeing in twins with bipolar disorder

Diagnosis of the neuronal ceroid lipofuscinoses: An update

AbstractFor the majority of families affected by one of the neuronal ceroid lipofuscinoses (NCLs), a biochemical and/or genetic diagnosis can be achieved. In an individual case this information not only increases understanding of the condition but also may influence treatment choices and options. The presenting clinical features prompt initial investigation and also guide clinical care. The clinical labels “infantile NCL”, “late infantile NCL” and “juvenile NCL”, therefore remain useful in practice. In unusual or atypical cases ultra-structural analysis of white blood cells or other tissue samples enables planning and prioritisation of biochemical and genetic tests.This review describes current methods available to achieve clinical, pathological, biochemical and genetic diagnosis in children presenting with symptoms suggestive of one of the NCLs

Hearing outcome in congenitally CMV infected children in Finland - Results from follow-up after three years age

Objectives: Cytomegalovirus (CMV) is the most common congenital infection affecting about 0.6% of all newborns in developed countries. Vertical transmission to fetus can take place either after maternal primary or non-primary CMV infection during pregnancy. It is the most common infectious agent for sensorineural hearing loss (SNHL) in young children. The hearing loss after congenital CMV (cCMV) may be present at birth, or may develop after months or even years. In this study, we evaluated hearing outcome at 3-4 years of age in children (n 32) with cCMV identified in universal saliva CMV-PCR-based screening.Methods: Study population consisted of mainly asymptomatic children (median age 3.1 years) with cCMV identified in newborn CMV screening. The type of maternal CMV infection (primary or non-primary) was determined by analyzing CMV antibodies (IgM, IgG and IgG avidity) from preserved maternal serum samples drawn in the end of first trimester of pregnancy. Hearing was evaluated with pure tone audiometry (PTA), or transient-evoked otoacoustic emission (TEOAE) and sound field audiometry (SF).Results: Unilateral hearing loss occurred in 5/32 (16%) of the children with cCMV. None of the subjects in our cohort had bilateral hearing loss. Hearing loss occurred in 3/15 (20%) of children who were born to mothers with non-primary CMV infection during pregnancy, and in 2/10 (20%) of children whose mother had had a primary CMV infection during the 2-3 trimester. None of the additional 6 children, whose mother had primary infection in the first trimester, had hearing loss by age of 3-4 years. Two children with normal hearing at 1 years age had developed unilateral hearing loss by the age of three.Conclusions: Unilateral hearing loss was relatively common among the mainly asymptomatic children with cCMV identified in screening. Long-term follow up of children with cCMV is essential to identify the children with late-onset hearing loss.Peer reviewe

Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S : Phenotypic manifestations of the m.8969G > A variant'

Peer reviewe

Neurodevelopmental and neuroradiologic outcomes in patients with univentricular heart aged 5 to 7 years: Related risk factor analysis

ObjectiveDespite improved survival and neurodevelopmental outcome, children with hypoplastic left heart syndrome and other forms of univentricular heart remain at increased risk for cognitive, motor, and other neurologic deficits.MethodsWe examined 27 children with hypoplastic left heart syndrome or other forms of univentricular heart at a median age of 5.70 years (range 4.99–7.51 years) and performed brain computed tomography or magnetic resonance imaging on 20. Possible risk factors were correlated with outcome.ResultsMean full-scale IQ among patients with hypoplastic left heart syndrome was 86.7; that among patients with other forms of univentricular heart was 89.1, with both differing significantly from the expected population mean (P = .015 and P = .029, respectively). Cerebral palsy was diagnosed in 1 of 7 patients with hypoplastic left heart syndrome and 2 of 20 with other forms of univentricular heart. Brain computed tomography or magnetic resonance imaging revealed ischemic changes and infarcts or atrophy in 5 of 8 patients who had undergone the Norwood procedure and in 2 of 12 of those who had not (P = .062). Abnormal computed tomographic findings correlated significantly with lower full-scale IQ (P = .045) and verbal IQ (P = .02). In the multiple linear regression model, diuresis the third day after the primary operation and cardiopulmonary bypass time in the bidirectional Glenn operation correlated significantly with the primary outcome of full-scale IQ.ConclusionIn children with univentricular heart, intellectual and neurologic deficits are common. Perioperative and postoperative risk factors related to the primary phase and bidirectional Glenn operation contribute to these deficits

Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children

Objectives: To clarify the diagnostic utility and the cost-effectiveness of whole-exome sequencing (WES) as a routine early-diagnostic tool in children with progressive neurological disorders. Methods: Patients with infantile-onset severe neurological diseases or childhood-onset progressive neurological disorders were prospectively recruited to this WES study, in the pediatric neurology clinic at Helsinki University Hospital during 2016-2018. A total of 48 patients underwent a singleton WES. A control group of 49 children underwent traditional diagnostic examinations and were retrospectively collected from the hospital records. Their use of health care services, related to the diagnostic process, was gathered. Incremental cost-effectiveness ratio (ICER) per additional diagnosis was calculated from the health care provider perspective. Bootstrapping methods were used to estimate the uncertainty of cost-effectiveness outcomes. Results: WES provided a better diagnostic yield (38%) than diagnostic pathway that did not prioritize WES in early diagnosis (25%). WES outperformed other diagnostic paths especially when made early, within one year of first admission (44%). Cost-effectiveness in our results are conservative, affected by WES costs during 2016-18. Conclusions: WES is an efficient and cost-effective diagnostic tool that should be prioritized in early diagnostic path of children with progressive neurological disorders. The progressively decreasing price of the test improves cost-effectiveness further. (C) 2021 The Authors. Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.Peer reviewe