TY  - JOUR
A1  - Barthold, Martina
A1  - Jurkutat, Anne
A1  - Goetz, Regina
A1  - Schubring, Lucia
A1  - Spiegler, Juliane
A1  - Fries, Ann-Sophie
A1  - Kiesel, Lucia
A1  - Klepper, Joerg
T1  - Timing of ketogenic dietary therapy (KDT) introduction and its impact on cognitive profiles in children with Glut1-DS — a preliminary study
JF  - Children
N2  - The aim of this research was to characterize cognitive abilities in patients with Glut1-Deficiency syndrome (Glut1DS) following ketogenic diet therapy (KDT). Methods: The cognitive profiles of eight children were assessed using the Wechsler Intelligence Scale (WISC-IV). The effect of ketogenic diet therapy (KDT) on individual subareas of intelligence was analyzed considering the potential influence of speech motor impairments. Results: Patients with Glut1DS showed a wide range of cognitive performance levels. Some participants showed statistically and clinically significant discrepancies between individual subdomains of intelligence. Both variables, KDT initiation as well as duration, had a positive effect on the overall IQ score. Significant correlations were partially found between the time of KDT initiation and the level of IQ scores, depending on the presence of expressive language test demands of the respective subtests of the WISC-IV. Accordingly, the participants benefited les in the linguistic cognitive domain. The discrepancies in cognitive performance profiles of patients with Glut1DS can be attributed to the possibility of a negative distortion of the results due to the influence of speech motor impairments. Conclusions: The individual access skills of test persons should be more strongly considered in test procedures for the assessment of intelligence to reduce the negative influence of motor deficits on test performance. Specific characterization and systematization of the speech disorder are indispensable for determining the severity of speech motor impairment in Glut1DS. Therefore, a stronger focus on dysarthria during diagnosis and therapy is necessary.
KW  - Glut1DS
KW  - ketogenic dietary therapy (KDT)
KW  - cognitive profile
KW  - Wechsler intelligence scale (WISC-IV)
KW  - speech motor impairment
KW  - movement disorder
Y1  - 2023
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-313569
SN  - 2227-9067
VL  - 10
IS  - 4
ER  - 
TY  - JOUR
A1  - Eurich, Benjamin
A1  - Nitsche, Catharina
A1  - Lau, Margot
A1  - Hanker, Britta
A1  - Spiegler, Juliane
A1  - Stichtenoth, Guido
T1  - Progressive respiratory insufficiency in a teenager with diaphragmatic hypomotility due to a novel combination of gliomedin gene variants
JF  - Children
N2  - 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’.
KW  - GLDN variant
KW  - gliomedin
KW  - juvenile progressive respiratory insufficiency
KW  - diaphragmatic hypomotility
KW  - scoliosis
KW  - arthrogryposis
KW  - LCCS11
KW  - axonopathy
KW  - FADS
Y1  - 2022
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-275199
SN  - 2227-9067
VL  - 9
IS  - 6
ER  - 
TY  - JOUR
A1  - Hanke, Kathrin
A1  - Rausch, Tanja K.
A1  - Sosnowski, Runa
A1  - Paul, Pia
A1  - Spiegler, Juliane
A1  - Müller, Mirja
A1  - König, Inke R.
A1  - Göpel, Wolfgang
A1  - Herting, Egbert
A1  - Härtel, Christoph
T1  - Early skin-to-skin contact does not affect cerebral tissue oxygenation in preterm infants <32 weeks of gestation
JF  - Children
N2  - Aim: It was the aim of our study to determine the regional cerebral tissue oxygenation saturation (rcSO\(_2\)) 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 rcSO\(_2\) 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 rcSO\(_2\) 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, rcSO\(_2\) 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 rcSO\(_2\) 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 FiO\(_2\) adjustment was required in the vast majority of SSC episodes. Conclusions: Our observational data indicate that rcSO\(_2\) values of infants during SSC were comparable to rcSO\(_2\) values during incubator care and resting time. This additional monitoring supports a safe implementation of early SSC in extremely preterm infants in NICUs.
KW  - regional cerebral oxygenation saturation
KW  - near infrared spectroscopy
KW  - skin-to-skin contact
KW  - preterm infants
Y1  - 2022
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-262290
SN  - 2227-9067
VL  - 9
IS  - 2
ER  - 
TY  - JOUR
A1  - Härtel, Christoph
A1  - Spiegler, Juliane
A1  - Fortmann, Ingmar
A1  - Astiz, Mariana
A1  - Oster, Henrik
A1  - Siller, Bastian
A1  - Viemann, Dorothee
A1  - Keil, Thomas
A1  - Banaschewski, Tobias
A1  - Romanos, Marcel
A1  - Herting, Egbert
A1  - Göpel, Wolfgang
T1  - Breastfeeding for 3 months or longer but not probiotics is associated with reduced risk for inattention/hyperactivity and conduct problems in very-low-birth-weight children at early primary school age
JF  - Nutrients
N2  - (1) Background: We aimed to evaluate the effect of proposed “microbiome-stabilising interventions”, i.e., breastfeeding for ≥3 months and prophylactic use of Lactobacillus acidophilus/ Bifidobacterium infantis probiotics on neurocognitive and behavioral outcomes of very-low-birthweight (VLBW) children aged 5–6 years. (2) Methods: We performed a 5-year-follow-up assessment including a strength and difficulties questionnaire (SDQ) and an intelligence quotient (IQ) assessment using the Wechsler Preschool and Primary Scale of Intelligence (WPPSI)-III test in preterm children previously enrolled in the German Neonatal Network (GNN). The analysis was restricted to children exposed to antenatal corticosteroids and postnatal antibiotics. (3) Results: 2467 primary school-aged children fulfilled the inclusion criteria. In multivariable linear regression models breastfeeding ≥3 months was associated with lower conduct disorders (B (95% confidence intervals (CI)): −0.25 (−0.47 to −0.03)) and inattention/hyperactivity (−0.46 (−0.81 to −0.10)) as measured by SDQ. Probiotic treatment during the neonatal period had no effect on SDQ scores or intelligence. (4) Conclusions: Prolonged breastfeeding of highly vulnerable infants may promote their mental health later in childhood, particularly by reducing risk for inattention/hyperactivity and conduct disorders. Future studies need to disentangle the underlying mechanisms during a critical time frame of development.
KW  - breastfeeding
KW  - probiotic prophylaxis
KW  - preterm children
KW  - strength and difficulties
KW  - inattention/hyperactivity
KW  - intelligence
Y1  - 2020
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-216319
SN  - 2072-6643
VL  - 12
IS  - 11
ER  -