Hintergrund: Zahlreiche Studien beschreiben weltweit eine Zunahme angeborener Fehlbildungen. Diese sind in Deutschland die häufigste Todesursache im frühen Kindesalter. Die hier vorliegende Studie untersuchte lokale und nationale Trends der Prävalenz von Gastroschisis, Omphalozele, Spina bifida und orofazialen Spaltbildungen von 2000 bis 2010. Methoden: Die Prävalenz der 4 Fehlbildungen wurde im Zeitraum Januar 2000–Dezember 2010 mithilfe von 4 Datenquellen aus Leipzig, Sachsen, Sachsen-Anhalt und Deutschland untersucht. Ergebnisse: Die Prävalenz der Fehlbildungen betrug im Untersuchungszeitraum in Deutschland bzw. in Sachsen 1,97/2,12 (Gastroschisis), 1,63/1,48 (Omphalozele), 5,80/8,11 (orofaziale Spaltbildungen) und 2,92/2,50 (Spina bifida) je 10 000 Lebendgeborene. In Sachsen zeigte sich ein Trendanstieg, dessen Effektstärken jedoch sehr gering sind (OR/Jahr zwischen 1,01–1,09). Auch in Deutschland insgesamt wurde eine signifikante Zunahme der Fehlbildungen beobachtet (OR/Jahr zwischen 1,01–1,04), ausgenommen davon war die Lebendgeborenenprävalenz der Spina bifida, die abzunehmen schien (OR/Jahr 0,986 (0,97–1,0), p-korrigiert = 0,04). Schlussfolgerung: Ob ein tatsächlicher Anstieg der Prävalenzen besteht oder lediglich Artefakte einen Anstieg vortäuschen, ist unklar. Änderungen in der Erfassungs- und Verschlüsselungspraxis, Fehlcodierungen, Doppel- und/oder lückenhafte Erfassung der Fehlbildungen könnten die Daten verfälschen. Da nur in Sachsen-Anhalt und Rheinland-Pfalz das Auftreten von Fehlbildungen prospektiv erfasst wird, könnten im Übrigen auch nur in diesen Bundesländern zeitnah Veränderungen der Fehlbildungsprävalenz erkannt werden. Angesichts der anscheinenden oder scheinbaren Zunahme von Fehlbildungen und der offensichtlich fehlerhaften Datenlage ist ein berücksichbundesweites oder sind weitere regionale Register für eine bessere und zeitnahe Erkennung und Erfassung von Fehlbildungen in Deutschland notwendig.:Inhaltsverzeichnis Bibliografische Beschreibung 4 I. Abkürzungsverzeichnis 6 1. Einleitung 7 1.1 Hintergrund 7 1.2 Gastroschisis 8 1.3 Omphalozele 12 1.4 Orofaziale Spaltbildungen 15 1.5 Spina bifida 19 1.6 Fragestellung der Studie 22 2. Publikation 25 3. Zusammenfassung der Arbeit 33 4. Literaturverzeichnis 40 II. Erklärung über die Eigenständigkeit der Arbeit 49 III. Lebenslauf 50 IV. Danksagung 52

How is it that some cells become neurons? And how is it that neurons become organized in the spinal cord and brain to allow us to walk and talk, to see, recall events in our lives, feel pain, keep our balance, and think? The cells that are specified to form the brain and spinal cord are originally located on the outside surface of the embryo. They loop inward to form the neural tube in a process called neurulation. Structures that are nearby send signals to the posterior neural tube to form and pattern the spinal cord so that the dorsal side receives sensory input and the ventral side sends motor signals from neurons to muscles. In the brain, stem cells near the center of the neural tube migrate out to form a mantel zone, and a set of dividing cells from the mantle zone migrate further to produce a second set of neurons at the outer surface of the brain. These neurons will form the cerebral cortex, which contains six discrete layers. Each layer has different connections and different functions. WIREs Dev Biol 2017, 6:e215. doi: 10.1002/wdev.215 For further resources related to this article, please visit the WIREs website.

This thesis explores the quality of life of the first generation of people with spina bifida to reach adulthood. The inquiry was conducted from the social/political approach to disability. From this perspective, disability is viewed as a matter of equality because the problems associated with having a disability are caused by barriers within the social environment. This human rights-based approach underlies much current Australian legislation and government disability policy. The research question was: do adults with spina bifida in New South Wales have the same quality of life as other adults in New South Wales? Quality of life was examined using a framework incorporating objective and subjective measures of quality of life, and the relationship between them, in thirteen domains of life. The role played by values was also explored. Qualitative and quantitative data were collected. Results from structured interviews with a stratified random sample of 117 adults with spina bifida were compared with the results of postal surveys from 180 Technical and Further Education students. 1991 Census data was also used for comparison. People with spina bifida were found to be disadvantaged in every area of life studied, being in the lowest categories of quality of life: 'adaptation' or 'reluctant adaptation' for nearly all domains. In this situation the spina bifida group had significantly lower objective life conditions than the comparison group, yet were as satisfied or more so, with these circumstances, having adapted their expectations downwards. Qualitative results revealed that people with spina bifida suffered high levels of discrimination, social exclusion and isolation. They wanted jobs, leisure opportunities, relationships and to form their own families. Having little hope of attaining these, however, they had become resigned to their disadvantaged situations. It is concluded that there is a large gap between current Australian disability policy rhetoric about rights and equity, and the reality for people with disabilities. It is also demonstrated that measurements of quality of life which take into account both objective and subjective indicators and the relationship between them, are vital for service planning and evaluation. Implications for future research, policy and practice conclude the thesis.

The purpose of this study was to determine the relationship of spinal deformity with physical function and self-perception in children with spina bifida. Ninety-eight eligible children with scoliosis and spina bifida were identified; 80 of them (82%) consented to participate. Spinal deformity was measured in many ways, including scoliosis, coronal balance, and pelvic obliquity. Measures of physical function included the Sitting Balance Scale, Jebsen Hand Scale, Hoffer Ambulation Scale, the Spine Bifida Spine Questionnaire, and the Activities Scale for Kids (ASK). Self-perception was determined with Harter's Self-Perception Profile. No relationship was found between spinal deformity and overall physical function (ASK). Of all aspects of spinal deformity, only coronal imbalance was significantly related to only one aspect of physical function (ie, sitting imbalance). No aspect of spinal deformity was related to self-perception. In conclusion, surgeons should be clear in their indications for surgery and recognize that in the short term the potential benefit of surgery may be, at best, to improve only sitting balance.

Thesis (M.S.)--Eastern Illinois University, 2004. / Includes bibliographical references (leaves 49-54).

No description available.

Health in archaeological populations needs to be investigated using a holistic approach. Molecular techniques, particularly multiplex PCR, can be used with paleopathology and dietary analysis to understand aspects of population health. This thesis demonstrates how spina bifida, a multi-factorial disease, can be investigated using this paleoepidemiological approach. Based on skeletal evidence, spina bifida was present in a pre-Columbian Cuban population from the archaeological site of Canimar Abajo. Molecular techniques were employed to examine disease potential, examining individuals for five single nucleotide polymorphisms associated with spina bifida. It is postulated that the combined effect of these polymorphisms, as well as dietary factors, determines the risk of the population for spina bifida, and that these factors came together to create the observed high disease prevalence. Therefore, this thesis demonstrates how the methods of molecular paleopathology, corroborated by dietary analyses, can be used within a paleoepidemiological framework to understand population health and disease.

Health in archaeological populations needs to be investigated using a holistic approach. Molecular techniques, particularly multiplex PCR, can be used with paleopathology and dietary analysis to understand aspects of population health. This thesis demonstrates how spina bifida, a multi-factorial disease, can be investigated using this paleoepidemiological approach. Based on skeletal evidence, spina bifida was present in a pre-Columbian Cuban population from the archaeological site of Canimar Abajo. Molecular techniques were employed to examine disease potential, examining individuals for five single nucleotide polymorphisms associated with spina bifida. It is postulated that the combined effect of these polymorphisms, as well as dietary factors, determines the risk of the population for spina bifida, and that these factors came together to create the observed high disease prevalence. Therefore, this thesis demonstrates how the methods of molecular paleopathology, corroborated by dietary analyses, can be used within a paleoepidemiological framework to understand population health and disease.

Background: Spina bifida (SB) is monitored through birth defects surveillance across the United States and in most developed countries. Although much is known about the management of SB and its many comorbid conditions in affected individuals, there are few systematic, longitudinal studies on population-based cohorts of children or adults. The natural history of SB across the life course of persons with this condition is not well documented. Earlier identification of comorbidities and secondary conditions could allow for earlier intervention that might enhance the developmental trajectory for children with SB. Objective: The purpose of this project was to assess the development, health, and condition progression by prospectively studying children who were born with SB in Arizona and Utah. In addition, the methodology used to collect the data would be evaluated and revised as appropriate. Methods: Parents of children with SB aged 3-6 years were eligible to participate in the study, in English or Spanish. The actual recruitment process was closely documented. Data on medical history were collected from medical records; family functioning, child behaviors, self-care, mobility and functioning, and health and well-being from parent reports; and neuropsychological data from testing of the child. Results: In total, 152 individuals with SB were identified as eligible and their parents were contacted by site personnel for enrollment in the study. Of those, 45 (29.6%) declined to participate and 6 (3.9%) consented but did not follow through. Among 101 parents willing to participate, 81 (80.2%) completed the full protocol and 20 (19.8%) completed the partial protocol. Utah enrolled 72.3% (73/101) of participants, predominately non-Hispanic (60/73, 82%) and male (47/73, 64%). Arizona enrolled 56% (28/50) of participants they had permission to contact, predominately Hispanic (18/28, 64%) and male (16/28, 57%). Conclusions: We observed variance by site for recruitment, due to differences in identification and ascertainment of eligible cases and the required institutional review board processes. Restriction in recruitment and the proportion of minorities likely impacted participation rates in Arizona more than Utah.

Following the publishing of the Management of Myelomeningocele Study, the advantages of in utero repair for fetal myelomeningoceles became points of interest for fetal surgeons. There are many variables that must align in order to have success in this type of repair. When a patient is eligible for this prenatal procedure it is preferable to perform it rather than do the repair postnatally as neurological outcomes for the infant tend to be much better following earlier intervention. It is very important to have a clear preoperative plan before beginning any fetal surgery. In doing so, one limits unforeseen events that may arise. With this in mind, we chose to analyze factors that affect the rates of patch placement (in lieu of a primary skin closure) during the prenatal repair and rates of shunt placement after the infant is born. A retrospective study was conducted on patients who underwent in utero repair for a myelomeningocele or myeloschisis defect at the Colorado Fetal Care Center. Multivariate analyses were performed to identify which preoperative, intraoperative, and postoperative factors were statistically significant (p ≤ 0.05) in predicting patch and shunt placement. Neuroimaging was found to be a key tool in predicting patch and shunt placement. Additionally, gestational age during prenatal intervention was found to be predictive of patch placement while the preoperative degree of cerebellar descent relative to the foramen magnum as well as 2-week hindbrain herniation classification were found to be predictive of shunt placement. These crucial findings will give physicians a framework to use when creating their preoperative plans and in doing so will allow for higher chances of success with this complex procedure.