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Featured researches published by Els Ortibus.


American Journal of Obstetrics and Gynecology | 2009

The pregnancy and long-term neurodevelopmental outcome of monochorionic diamniotic twin gestations: a multicenter prospective cohort study from the first trimester onward

Els Ortibus; Enrico Lopriore; Jan Deprest; Frank P.H.A. Vandenbussche; Frans J. Walther; Anke Diemert; Kurt Hecher; Lieven Lagae; Paul De Cock; Paul Lewi; Liesbeth Lewi

OBJECTIVES We sought to document the pregnancy and neurodevelopmental outcome in monochorionic diamniotic twin pregnancies and to identify risk factors for death and impairment. STUDY DESIGN We conducted a prospective cohort study of 136 monochorionic twins followed up from the first trimester until infancy. RESULTS A total of 122 (90%) pregnancies resulted in 2 survivors, 6 (4%) in 1 survivor and 8 (6%) in no survivor. In all, 230 (92%) of 250 surviving infants were assessed at a mean age of 24 months. Neurodevelopmental impairment was present in 22 (10%) infants. Death or impairment of 1 or both infants occurred in 28 (22%) of 126 pregnancies. Twin-to-twin transfusion syndrome and assisted conception increased the risk of both death and impairment, whereas early-onset discordant growth only increased the risk of death. CONCLUSION The mortality in this prospective series was 8% and neurodevelopmental impairment occurred in 10% of infants.


Gait & Posture | 2010

Low vision affects dynamic stability of gait

Ann Hallemans; Els Ortibus; Françoise Meire; Peter Aerts

The objective of this study was to demonstrate specific differences in gait patterns between those with and without a visual impairment. We performed a biomechanical analysis of the gait pattern of young adults (27 ± 13 years old) with a visual impairment (n=10) in an uncluttered environment and compared it to the gait pattern of age matched controls (n=20). Normally sighted adults were tested in a full vision and no vision condition. Differences are found in gait between both groups and both situations. Adults with a visual impairment walked with a shorter stride length (1.14 ± 0.21m), less trunk flexion (4.55 ± 5.14°) and an earlier plantar foot contact at heel strike (1.83 ± 3.49°) than sighted individuals (1.39 ± 0.08 m; 11.07 ± 4.01°; 5.10 ± 3.53°). When sighted individuals were blindfolded (no vision condition) they showed similar gait adaptations as well as a slower walking speed (0.84 ± 0.28 ms(-1)), a lower cadence (96.88 ± 13.71 steps min(-1)) and limited movements of the hip (38.24 ± 6.27°) and the ankle in the saggital plane (-5.60 ± 5.07°) compared to a full vision condition (1.27 ± 0.13 ms(-1); 110.55 ± 7.09 steps min(-1); 45.32 ± 4.57°; -16.51 ± .59°). Results showed that even in an uncluttered environment vision is important for locomotion control. The differences between those with and without a visual impairment, and between the full vision and no vision conditions, may reflect a more cautious walking strategy and adaptive changes employed to use the foot to probe the ground for haptic exploration.


Obstetrics & Gynecology | 2009

Risk Factors for Neurodevelopment Impairment in Twin-Twin Transfusion Syndrome Treated With Fetoscopic Laser Surgery

Enrico Lopriore; Els Ortibus; Ruthy Acosta-Rojas; Saskia le Cessie; Johanna M. Middeldorp; Dick Oepkes; Eduard Gratacós; Frank P.H.A. Vandenbussche; Jan Deprest; Frans J. Walther; Liesbeth Lewi

OBJECTIVE: To estimate the risk factors for adverse long-term neurodevelopment outcome in twin–twin transfusion syndrome treated with laser surgery. METHODS: Twin–twin transfusion syndrome cases treated with laser surgery at three European centers from August 2000 to December 2005 were included in this case-control study. Neurological, mental, and psychomotor development (using the Bayley Scales of Infant Development, 2nd edition) was evaluated at 2 years of age. RESULTS: A total of 212 twin–twin transfusion syndrome pregnancies were treated with laser surgery during the study period. Overall mortality rate was 30% (129 of 424). Seventeen children (6%) were lost to follow-up. Long-term outcome was assessed in 278 infants. The incidence of neurodevelopment impairment was 18% (50 of 278). Four risk factors were found to be significantly associated with increased risk for neurodevelopment impairment: greater gestational age at laser surgery (odds ratio [OR] 1.30, 95% confidence interval [CI] 1.00–1.69; P=.05), higher Quintero stage (OR 3.55 for each increment in stage, 95% CI 1.07–11.82, P=.04), lower gestational age at birth (OR 1.39 for each week, 95% CI 1.06–1.81; P=.01), and lower birth weight (OR 1.18 for each 100-g decrease, 95% CI 1.05–1.32; P<.01). In a multivariable analysis, lower gestational age at birth was the only factor independently associated with neurodevelopmental impairment (OR 1.33 for each week, 95% CI 1.05–1.67, P=.02). CONCLUSION: Neurodevelopment impairment in twin– twin transfusion syndrome survivors treated with laser surgery is associated with advanced gestational age at laser surgery, low gestational age at birth, low birth weight, and high Quintero stage. LEVEL OF EVIDENCE: II


Clinical Genetics | 2010

Refining the phenotype associated with MEF2C haploinsufficiency

Francesca Novara; Silvana Beri; Roberto Giorda; Els Ortibus; S Nageshappa; Francesca Darra; B. Dalla Bernardina; Orsetta Zuffardi; H. Van Esch

Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, dalla Bernardina B, Zuffardi O, Van Esch H. Refining the phenotype associated with MEF2C haploinsufficiency.


Journal of Medical Genetics | 2011

Phenotypic spectrum associated with CASK loss-of-function mutations

Ute Moog; Kerstin Kutsche; Fanny Kortüm; Bettina Chilian; Tatjana Bierhals; Neophytos Apeshiotis; Stefanie Balg; Nicolas Chassaing; Christine Coubes; Soma Das; Hartmut Engels; Hilde Van Esch; Ute Grasshoff; Marisol Heise; Bertrand Isidor; Joanna Jarvis; Udo Koehler; Thomas Martin; Barbara Oehl-Jaschkowitz; Els Ortibus; Daniela T. Pilz; Prab Prabhakar; Gudrun Rappold; Isabella Rau; Günther Rettenberger; Gregor Schlüter; Richard H. Scott; Moonef Shoukier; Eva Wohlleber; Birgit Zirn

Background Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia. Methods The study characterised the CASK alteration in 20 new female patients by molecular karyotyping, fluorescence in situ hybridisation, sequencing, reverse transcriptase (RT) and/or quantitative real-time PCR. Clinical and brain imaging data of a total of 25 patients were reviewed. Results 11 submicroscopic copy number alterations, including nine deletions of ∼11 kb to 4.5 Mb and two duplications, all covering (part of) CASK, four splice, four nonsense, and one 1 bp deletion are reported. These heterozygous CASK mutations most likely lead to a null allele. Brain imaging consistently showed diffuse brainstem and cerebellar hypoplasia with a dilated fourth ventricle, but of remarkably varying degrees. Analysis of 20 patients in this study, and five previously reported patients, revealed a core clinical phenotype comprising severe developmental delay/intellectual disability, severe postnatal microcephaly, often associated with growth retardation, (axial) hypotonia with or without hypertonia of extremities, optic nerve hypoplasia, and/or other eye abnormalities. A recognisable facial phenotype emerged, including prominent and broad nasal bridge and tip, small or short nose, long philtrum, small chin, and/or large ears. Conclusions These findings define the phenotypic spectrum associated with CASK loss-of-function mutations. The combination of developmental and brain imaging features together with mild facial dysmorphism is highly suggestive of this disorder and should prompt subsequent testing of the CASK gene.


Developmental Medicine & Child Neurology | 2012

Integrity of the inferior longitudinal fasciculus and impaired object recognition in children: a diffusion tensor imaging study

Els Ortibus; Judith Verhoeven; Stefan Sunaert; Ingele Casteels; Paul De Cock; Lieven Lagae

Aim  In this study, we explored the integrity of the inferior longitudinal fasciculus (ILF) by means of diffusion tensor imaging tractography in children with visual perceptual impairment, and more specifically, object recognition deficits, compared with typically developing children.


Gait & Posture | 2009

Visual deprivation leads to gait adaptations that are age- and context-specific: II. Kinematic parameters

Ann Hallemans; Sofie Beccu; Kelly Van Loock; Els Ortibus; Steven Truijen; Peter Aerts

Significant differences exist between eyes open (EO) and eyes closed (EC) conditions in postural sway, self-selected dimensionless walking speed and duration of double support in both children and adults. The decrease in speed could be attributed to a decrease in dimensionless stride length. The question remains whether the slower gait is a reflection of fundamental changes in movement control in the absence of vision or it results from uncertainty or fear of falling. Studying the differences in foot and ankle kinematics between the two conditions may provide further information. In this study we compare the impact of visual deprivation on joint kinematics during locomotion in adults and children. Visual deprivation had a significant effect on the gait pattern of healthy children and adults. Differences included a more backward leaning position of the trunk, limited movement in the pelvis, reduced hip adduction during stance, increased flexion of the knee related to flat foot contact and reduced ankle plantar flexion at push-off. These differences indicate a more cautious walking strategy in the absence of vision, probably resulting from postural control problems. Although age also had a significant effect on gait in both EO and EC conditions, adults and children show little differences in their kinematic response to blindfolding.


Developmental Medicine & Child Neurology | 2006

Motor function following multilevel botulinum toxin type A treatment in children with cerebral palsy

Kaat Desloovere; Guy Molenaers; Jos De Cat; Petra Pauwels; Anja Van Campenhout; Els Ortibus; Guy Fabry; Paul De Cock

This study evaluated the effects of multilevel botulinum toxin type A (BTX‐A) treatments on the gait pattern of children with spastic cerebral palsy (Gross Motor Function Classification System Levels I‐III). In this nested case—control design, 30 children (mean age 6y 11mo [SD 1y 5mo]; 21 males, nine females; 19 with hemiplegia, 11 with diplegia) were treated according to best practice guidelines in paediatric orthopaedics, including BTX‐A injections. A matched control group of 30 children (mean age 7y 8mo [SD 1y 10mo]; 13 males, 17 females; 19 with hemiplegia, 11 with diplegia) were treated identically, but without BTX‐A. Motor development status at 5 to 10 years of age was assessed by means of three‐dimensional gait analysis at a mean time of 1 year 10 months (SD 10mo) after the last BTX‐A treatment. The control group showed a significantly more pronounced pathological gait pattern than the BTX‐A group. Major differences were found for pelvic anterior tilt, maximum hip and knee extension, and internal hip rotation. These results provide evidence for a prolonged effect of BTX‐A and suggest that BTX‐A injections, in combination with common conservative treatment options, result in a gait pattern that is less defined by secondary problems (e.g. bony deformities) at 5 to 10 years of age, minimizing the need for complex surgery at a later age and enhancing quality of life.


Obstetrics & Gynecology | 2007

Outcome at 3 Years of Age in a Population-Based Cohort of Extremely Preterm Infants

Isabel De Groote; Piet Vanhaesebrouck; Els Bruneel; Lina Dom; Isabelle Durein; Danielle Hasaerts; Sabine Laroche; Ann Oostra; Els Ortibus; Herbert Roeyers; Christine van Mol

OBJECTIVE: To assess health and neurodevelopmental outcome at 3 years of age in neonatal intensive care unit (NICU)–surviving children who were born at 26 or fewer weeks of gestation in a geographically defined region of Belgium from 1999 through 2000. METHODS: The study included a clinical examination and a standardized neurologic and developmental assessment. Disabilities were defined by international criteria. In 97% (92 of 95) of the children, accurate information on the presence of overall disability could be collected. RESULTS: Thirty-six percent (95% confidence interval [CI] 25–47%) of the formally assessed children (28 of 77) had deficient neuromotor development, with 5% of them showing severe sensory-communicative impairment. Mean (±standard deviation) scores on the Mental Developmental Index and Psychomotor Developmental Index were 81.2 (18.8) and 73.2 (17.8), respectively. Seventy percent (95% CI 60–80%) had a mental (Mental Developmental Index) or psychomotor (Psychomotor Developmental Index) impairment or both, assessed to be more than 1 standard deviation below the population mean. Mental and psychomotor outcome did not differ significantly when compared according to either gestational age, gender, or multiple birth (all P>.05). When either minor central dysfunction or cerebral palsy was not taken into account, normal mental development was recorded in 62% of the subjects. The cumulative of poor outcome (ie, disability- or prematurity-related death) among the 95 infants discharged alive was estimated to be 58% (95% CI 48–68%), representing 25 (26%) mildly-to-moderately disabled and 28 (29%) severely disabled toddlers, including two infants whose postdischarge deaths were directly related to prematurity. CONCLUSION: The average developmental outcome is poor in children born as extremely preterm infants. Finding early predictors of adverse outcome is a major challenge. LEVEL OF EVIDENCE: III


Developmental Medicine & Child Neurology | 2012

The Dyskinesia Impairment Scale: a new instrument to measure dystonia and choreoathetosis in dyskinetic cerebral palsy.

Elegast Monbaliu; Els Ortibus; Jos De Cat; Bernard Dan; Lieve Heyrman; Peter Prinzie; Paul De Cock; Hilde Feys

Aim  The aim of this study was to examine the reliability and validity of the Dyskinesia Impairment Scale (DIS). The DIS consists of two subscales: dystonia and choreoathetosis. It measures both phenomena in dyskinetic cerebral palsy (CP).

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Paul De Cock

Katholieke Universiteit Leuven

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Elegast Monbaliu

Katholieke Universiteit Leuven

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Hilde Feys

Katholieke Universiteit Leuven

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Kaat Desloovere

Katholieke Universiteit Leuven

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Katrijn Klingels

Katholieke Universiteit Leuven

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Guy Molenaers

Katholieke Universiteit Leuven

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Peter Prinzie

Erasmus University Rotterdam

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Josse De Cat

Katholieke Universiteit Leuven

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Lisa Mailleux

Katholieke Universiteit Leuven

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Anja Van Campenhout

Katholieke Universiteit Leuven

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