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  • 1
    Online Resource
    Online Resource
    American Medical Association (AMA) ; 2023
    In:  JAMA Network Open Vol. 6, No. 8 ( 2023-08-31), p. e2331815-
    In: JAMA Network Open, American Medical Association (AMA), Vol. 6, No. 8 ( 2023-08-31), p. e2331815-
    Abstract: Birth weight percentiles (BWPs) are often dichotomized at the 10th percentile and show statistically significant association with later cognitive performance, for both preterm and term-born children. However, research testing nonlinear associations between BWPs and cognitive performance is scarce. Objective To investigate culturally invariant, nonlinear associations of BWPs and gestational age with later cognitive performance. Design, Setting, and Participants In this cohort study, participants with valid neonatal and cognitive data were combined from 4 observational cohorts, including the Millennium Cohort Study, the National Longitudinal Survey of Youth 1979 Child and Young Adult cohort, Growing Up in Ireland, and the Longitudinal Study of Australian Children, with children born between 2000 and 2002, 1980 and 2010, 2007 and 2008, and 2003 and 2004, respectively. Neonatal data were parent reported before age 1 year. At approximately 5 years of age, multiple cognitive tests were performed. Follow-up at 5 years of age was the predominant focus. Data were analyzed July 17, 2023. Exposure The parent-reported neonatal data were used to calculate BWPs according to the Fenton growth chart. Main Outcome and Measure Scores for IQ were created from multiple measures of cognition, which were z standardized separately within each cohort. Results Of 30 643 participants (50.8% male), 7.5% were born preterm (before 37 weeks gestation) and 92.5% were term born (between 37 and 42 weeks gestation). In the pooled data using multivariate adaptive regression splines, IQ linearly increased by 4.2 points as BWPs increased from the first to the 69th percentile before completely plateauing. For gestational age, IQ linearly increased by 1.3 points per week up until 32 weeks, with the association reducing to 0.3 points per week after 32 weeks. The association of BWP with IQ was not moderated by gestational age. For term-born infants, the estimated IQ score was only clinically meaningfully lower than average when birth weight was below the third percentile. Consistent results were found when instead using multivariable regression where gestational age and BWPs were categorized into groups. Conclusions and Relevance In this cohort study, lower BWPs and gestational age were independently associated with lower IQ. For term-born infants, a cutoff of the third percentile would be more appropriate than the traditionally used 10th percentile when the aim is estimating meaningful cognitive differences.
    Type of Medium: Online Resource
    ISSN: 2574-3805
    Language: English
    Publisher: American Medical Association (AMA)
    Publication Date: 2023
    detail.hit.zdb_id: 2931249-8
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  • 2
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 95, No. 22 ( 2020-12-01), p. e3012-e3025
    Abstract: To clinically characterize patients with anti-metabotropic glutamate receptor (mGluR) 1 encephalitis, to identify prognostic factors, and to study the immunoglobulin G (IgG) subclasses and effects of antibodies on neuronal mGluR1 clusters. Methods Clinical information on new and previously reported patients was reviewed. Antibodies to mGluR1 and IgG subclasses were determined with brain immunohistochemistry and cell-based assays, and their effects on mGluR1 clusters were studied on rat hippocampal neurons. Results Eleven new patients were identified (10 adults, 1 child);4 were female. In these and 19 previously reported cases (n = 30, median age 55 years), the main clinical manifestation was a subacute cerebellar syndrome that in 25 (86%) patients was associated with behavioral/cognitive changes or other neurologic symptoms. A tumor was found in 3 of 26 (11%). Brain MRI was abnormal in 7 of 19 (37%) at onset and showed cerebellar atrophy in 10 of 12 (83%) at follow-up. Twenty-five of 30 (83%) patients received immunotherapy. Follow-up was available for 25: 13 (52%) had clinical stabilization; 10 (40%) showed significant improvement; and 2 died. At the peak of the disease, patients with bad outcome at 2 years (modified Rankin Scale score 〉 2, n = 7) were more likely to have higher degree of initial disability, as reflected by a worse Scale for Assessment and Rating of Ataxia score, and more frequent need of assistance to walk. Antibodies to mGluR1 were mainly IgG1 and caused a significant decrease of mGluR1 clusters in cultured neurons. Conclusions Anti-mGluR1 encephalitis manifests as a severe cerebellar syndrome, often resulting in long-term disability and cerebellar atrophy. The antibodies are pathogenic and cause significant decrease of mGluR1 clusters in cultured neurons.
    Type of Medium: Online Resource
    ISSN: 0028-3878 , 1526-632X
    RVK:
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2020
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  • 3
    In: Children, MDPI AG, Vol. 9, No. 2 ( 2022-02-06), p. 211-
    Abstract: Aim: It was the aim of our study to determine the regional cerebral tissue oxygenation saturation (rcSO2) as an additional monitoring parameter during early skin-to-skin contact (SSC) in preterm infants with a gestational age of 〈 32 gestational weeks. Methods: We conducted two observational convenience sample studies using additional monitoring with near-infrared spectroscopy (NIRS) in the first 120 h of life: (a) NIRS 1 (gestational age of 26 0/7 to 31 6/7 weeks) and (b) NIRS 2 (gestational age of 24 0/7 to 28 6/7 weeks). The rcSO2 values were compared between resting time in the incubator (period I), SSC (period II) and handling nursing care (period III). For the comparison, we separated the sequential effects by including a “wash-out phase” of 1 h between each period. Results: During the first 120 h of life 38/53 infants in NIRS 1 and 15/23 infants in NIRS 2 received SSC, respectively. We found no remarkable differences for rcSO2 values of NIRS 1 patients between SSC time and period I (95% confidence interval (CI) for the difference in %: SSC vs. period I [1; 3]). In NIRS 2, rcSO2 values during SSC were only 2% lower compared with period I [median [1. quartile; 3. quartile] in %; 78 [73; 82] vs. 80 [74; 85]] but were similar to period III [78 [72; 83]]. In a combined analysis, a small difference in rcSO2 values between SSC and resting times was found using a generalized linear mixed model that included gender and gestational age (OR 95% CI; 1.178 [1.103; 1.253] , p 〈 0.0001). Episodes below the cut-off for “hypoxia”; e.g., 〈 55%, were comparable during SSC and periods I and III (0.3–2.1%). No FiO2 adjustment was required in the vast majority of SSC episodes. Conclusions: Our observational data indicate that rcSO2 values of infants during SSC were comparable to rcSO2 values during incubator care and resting time. This additional monitoring supports a safe implementation of early SSC in extremely preterm infants in NICUs.
    Type of Medium: Online Resource
    ISSN: 2227-9067
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2732685-8
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  • 4
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 2022
    In:  Monatsschrift Kinderheilkunde Vol. 170, No. 6 ( 2022-06), p. 520-529
    In: Monatsschrift Kinderheilkunde, Springer Science and Business Media LLC, Vol. 170, No. 6 ( 2022-06), p. 520-529
    Type of Medium: Online Resource
    ISSN: 0026-9298 , 1433-0474
    RVK:
    Language: German
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 1462918-5
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  • 5
    Online Resource
    Online Resource
    Ovid Technologies (Wolters Kluwer Health) ; 2013
    In:  Journal of Pediatric Orthopaedics B Vol. 22, No. 1 ( 2013-01), p. 76-80
    In: Journal of Pediatric Orthopaedics B, Ovid Technologies (Wolters Kluwer Health), Vol. 22, No. 1 ( 2013-01), p. 76-80
    Type of Medium: Online Resource
    ISSN: 1060-152X
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2013
    detail.hit.zdb_id: 2071269-8
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  • 6
    In: Twin Research and Human Genetics, Cambridge University Press (CUP), Vol. 15, No. 4 ( 2012-08), p. 532-536
    Abstract: The increasing rates of preterm birth among twins implicate that solid data on associated risks and outcomes are required. Assessment of zygosity is often based on clinical criteria (evaluation of placenta; same gender, birth weight discordance as surrogate criteria for monochorionic/monozygotic twins). The aim of this study was to compare clinical versus genetic assessment of zygosity and to compare causes of preterm delivery as well as outcome data of very-low-birth-weight (VLBW; birth weight 〈 1,500 g) twins stratified to zygosity. In a multicenter study, we selected n = 176 sets of same gender twins and determined zygosity genetically. In a subgroup of 123 sets of twins, the attending physicians at the study centers were asked to document the parameter ‘zygosity’ (monozygotic/dizygotic) on the basis of their clinical judgment. Concordance between genetic and clinical assessment was 62.7% for monozygotic twins and 88.9% for dizygotic twins, respectively. Outcome parameters (death, BPD, ROP, NEC, IVH) were comparable in both groups. Genetically dizygotic twins were significantly more often born due to intrauterine infection (33% vs. 20% in monozygotic twins, p 〈 .01) and antenatal antibiotics were more frequently given to mothers of dizygotic twins (62% vs. 47% in monozygotic twins, p 〈 .01). Obstetric complications such as twin-twin-transfusion-syndrome were only seen in monozygotic twins as expected. The unexpected increase of antenatal antibiotic treatment and birth due to intrauterine infection in dizygotic twins should be confirmed in additional VLBW twin-cohorts.
    Type of Medium: Online Resource
    ISSN: 1832-4274 , 1839-2628
    Language: English
    Publisher: Cambridge University Press (CUP)
    Publication Date: 2012
    detail.hit.zdb_id: 2184274-7
    SSG: 12
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  • 7
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 2023
    In:  Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz Vol. 66, No. 7 ( 2023-07), p. 736-744
    In: Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, Springer Science and Business Media LLC, Vol. 66, No. 7 ( 2023-07), p. 736-744
    Abstract: The distinction between mental (spiritual and psychological) and physical health disorders is particularly difficult due to the special features of neurobiological development in children and adolescents. In this review article, the basics of developmental neurology are briefly described. On the basis of some congenital or early acquired neurological diseases, it is then shown to what extent mental processes can be impaired in interactions with the social context. Taking these aspects into account plays an important role in child and family-oriented counseling and support. The common occurrence of physical, mental, and psychological development disorders, which is also very variable between individuals and fluctuates over the course of a person’s life, requires good interdisciplinary cooperation between conservative and surgical child and adolescent medicine and child and adolescent psychiatry.
    Type of Medium: Online Resource
    ISSN: 1436-9990 , 1437-1588
    Language: German
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 1470303-8
    SSG: 20,1
    SSG: 8,1
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  • 8
    In: Children, MDPI AG, Vol. 9, No. 6 ( 2022-05-28), p. 797-
    Abstract: Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory insufficiency. Patients with this condition have been predominantly treated by pediatricians as they usually do not survive beyond childhood. In this case report, we present a young adult who developed severe progressive respiratory insufficiency as a teenager due to diaphragmatic hypomotility and was diagnosed with LCCS11 following the discovery of compound heterozygous pathogenic variants in GLDN. This case demonstrates the importance of screening for neuromuscular diseases in well-child visits and follow-ups of patients at risk for gross and fine motor function developmental delay. It also underscores the significance of including LCCS11 and other axonopathies in the differential diagnosis of juvenile onset of respiratory insufficiency, highlights that patients with this condition may present to adult practitioners and questions whether the nomenclature of this condition with various phenotypes should be reconsidered due to the stigmatizing term ‘lethal’.
    Type of Medium: Online Resource
    ISSN: 2227-9067
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2732685-8
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  • 9
    In: Molecular Genetics & Genomic Medicine, Wiley, Vol. 2, No. 2 ( 2014-03), p. 176-185
    Abstract: Cerebral cavernous malformations ( CCM ) are prevalent vascular malformations occurring in familial autosomal dominantly inherited or isolated forms. Once CCM are diagnosed by magnetic resonance imaging, the indication for genetic testing requires either a positive family history of cavernous lesions or clinical symptoms such as chronic headaches, epilepsy, neurological deficits, and hemorrhagic stroke or the occurrence of multiple lesions in an isolated case. Following these inclusion criteria, the mutation detection rates in a consecutive series of 105 probands were 87% for familial and 57% for isolated cases. Thirty‐one novel mutations were identified with a slight shift towards proportionally more CCM3 mutations carriers than previously published ( CCM1 : 60%, CCM2 : 18%, CCM3 : 22%). In‐frame deletions and exonic missense variants requiring functional analyses to establish their pathogenicity were rare: An in‐frame deletion within the C‐terminal FERM domain of CCM1 resulted in decreased protein expression and impaired binding to the transmembrane protein heart of glass ( HEG1 ). Notably, 20% of index cases carrying a CCM mutation were below age 10 and 33% below age 18 when referred for genetic testing. Since fulminant disease courses during the first years of life were observed in CCM1 and CCM3 mutation carriers, predictive testing of minor siblings became an issue.
    Type of Medium: Online Resource
    ISSN: 2324-9269 , 2324-9269
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2014
    detail.hit.zdb_id: 2734884-2
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  • 10
    Online Resource
    Online Resource
    Verlag Barbara Budrich GmbH ; 2020
    In:  ZISU – Zeitschrift für interpretative Schul- und Unterrichtsforschung Vol. 9, No. 1-2020 ( 2020-5-12), p. 156-163
    In: ZISU – Zeitschrift für interpretative Schul- und Unterrichtsforschung, Verlag Barbara Budrich GmbH, Vol. 9, No. 1-2020 ( 2020-5-12), p. 156-163
    Type of Medium: Online Resource
    ISSN: 2195-2671 , 2191-3560
    URL: Issue
    URL: Issue
    Language: German
    Publisher: Verlag Barbara Budrich GmbH
    Publication Date: 2020
    detail.hit.zdb_id: 2666086-6
    SSG: 5,3
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