Thesis--Uníversity of California. / eContent provider-neutral record in process. Description based on print version record. Bibliography: leaves 208-219.

Neural tube defects are a set of developmental malformations which can be highly debilitating, with limited treatment available. Mouse mutants exhibiting neural tube defects are studied to identify processes promoting proper neural tube closure, and potential points of intervention for future therapies. This thesis characterises the mouse mutant hitchhiker (hhkr), a hypomorphic allele of Tulp3 which presents with neural tube defects and polydactyly. The spina bifida and exencephaly observed in hhkr mutants are demonstrated to be consequences of failure of neural tube closure, and excessive proliferation is identified in the hindbrain neuroepithelium of mutant embryos. Intriguingly, increases apoptosis was reported for the Tulp3tmlJng mutant (lkeda et aI., 2001), and this increase is not conserved in Tulp3hhkr. Further support is provided for the role of Tulp3 as a negative regulator of Sonic hedgehog (Shh) signalling, confirming such a role in the limb, while preliminary data from genetic interaction studies between hhkr and Tectonic-/- are presented to suggest Tulp3 may exert a positive influence on Shh signalling in cranial regions. The molecular function of the Tulp3 protein is investigated, revealing an interaction between Tulp3 and Alx1, a transcription factor involved in skeletal patterning. An interaction between Tulp3 and Trim71, an E3 ubiquitin ligase is also demonstrated and supported by the eo- localisation of the proteins in transfected cells. Tulp3 is shown to be ubiquitinated in vivo, although this modification does not appear to be dependent on Trim7!. This thesis provides evidence that Tulp3 is likely to be involved in diverse protein-protein interactions around the cell, and some of these interactions may be crucial in promoting the proper closure of the neural tube.

The purpose of this study was to gain an understanding of mothers perspectives of their childrens experiences in inclusive physical education. It describes the value mothers placed on physical education, the meaning they ascribed to their childrens physical education experiences, the role of the Personal Program Plan (PPP) in mothers communication with the school, and the other means of communication they used to share their thoughts about childrens participation. The stories of mothers of elementary (1 boy, 3 girls) and secondary (2 boys, 1 girl) aged children with spina bifida were collected and analyzed using the hermeneutic phenomenological methods of semi-structured interviews, artifacts, documents, and field notes. The thematic analysis revealed three themes: A Good Thing But, Connection to Disability Sports, and Beyond the Curriculum. Peters (1996) model of disablement provided the conceptual framework for the interpretation of the findings.

Many patients with Spina Bifida suffer from hydrocephalus as a complication of their developmental disability and surgeons commonly treat this condition with ventriculoperitoneal shunts. Surgeons have speculated for years that these shunts may cause some type of visual disturbance because of their close proximity to the visual pathways in the brain. Little research has been done, however, to support or discourage this commonly held belief. Questions and data from the Arkansas Spina Bifida Research Project were used to examine whether ventriculoperitoneal (VP) shunts and VP shunt revisions increase reports of visual complaints for the individuals participating in this research project. This cross sectional design used responses to the vision questions from the 2005 Arkansas Spina Bifida Questionnaire. Results showed a 333% increase in reported vision complaints after receiving a VP shunt, but no significance with the increase in vision complaints for those having three or more VP shunt revisions. Females were 50% to 60% less likely to report vision complaints in both multivariate linear logistic models. While these results indicate the potential relationship between VP shunts and vision concerns, they must be viewed cautiously in light of study limitations due to the small sample size, selection bias, and study design.

The purpose of this study was to gain an understanding of mothers perspectives of their childrens experiences in inclusive physical education. It describes the value mothers placed on physical education, the meaning they ascribed to their childrens physical education experiences, the role of the Personal Program Plan (PPP) in mothers communication with the school, and the other means of communication they used to share their thoughts about childrens participation. The stories of mothers of elementary (1 boy, 3 girls) and secondary (2 boys, 1 girl) aged children with spina bifida were collected and analyzed using the hermeneutic phenomenological methods of semi-structured interviews, artifacts, documents, and field notes. The thematic analysis revealed three themes: A Good Thing But, Connection to Disability Sports, and Beyond the Curriculum. Peters (1996) model of disablement provided the conceptual framework for the interpretation of the findings.

Thesis (M.S.)--Brigham Young University. Dept. of Communication Disorders, 2007. / Includes bibliographical references (p. 44-51).

Magister Artium - MA / Background: Spina Bifida (SB) is one of the leading causes of disability in children globally. Its management in Sub-Saharan countries is quite challenging and has shown to be an expensive public health problem. A recent study on SB has shown that physiotherapy is poorly utilised in Zambia. Although it is very cardinal in the rehabilitation of children right from birth, very little is known on the role of physiotherapy in the management of children with SB. Aim: To investigate the role of physiotherapy in the management of SB patients both at the University Teaching Hospital (UTH) and Beit Cure International Hospital (BCIH) during the period: January 2010 to December 2014. Study design: A sequential explanatory mixed study design was used for this study. An adapted validated data extraction form was used to capture quantitative data from hospital records, while an interview guide was used in in-depth interviews and Focus Group Discussion (FGDs) with specialist physiotherapists. Data analysis: Quantitative data was analysed using SPSS version 23 and descriptive statistics represented on graphs, charts and tables in form of percentages and frequency distributions. Qualitative data was audiotaped during the focus group discussion and in-depth interviews, transcribed verbatim and thematic analysis was used. Results: A total number of 207 children with SB were managed during the period under review at the two hospitals with the most prevalent type of SB being myelomeningocele and hydrocephalus at 69.4%, commonly located in the lumbar region 53.3%, prone in female patients 55.6%. A total of 38% had an increased tone while 2% had low tone indicating the need for physiotherapy. Through purposive sampling, a total of eight physiotherapists took part in the qualitative study. Results showed that there are poor referral systems for physiotherapy at the two hospitals making follow up quite difficult at times. Information on physiotherapy sessions was not included in patient files but only indicated in the physiotherapy departmental registers. Some physiotherapists felt that their role in the rehabilitation process was not known amongst team members such as surgeons. However, the availability of assistive devices at the hospitals helped provide better services which in turn promoted improvement in patients and also contributed to motivation. Conclusion: Having undergone some training as rehabilitation team members, all the physiotherapists noted that training helped to empower them, gain experience and changed attitudes of some rehabilitation team towards them. It is therefore recommended that the referral system and documentation be improved upon in order to effectively work together as a rehabilitation team with common goals.

Camping has been identified as a resource for educational, therapeutic, and recreational growth. The purpose of this study was to determine the psychosocial effects of a therapeutic camping experience with first time campers with spina bifida. In this study with four first time campers with spina bifida, three areas related to the camp experience were observed and measured: recreation participation, fun/pleasure, and self esteem. Both qualitative and quantitative methods were used, including the Coopersmith Self Esteem Inventory, the Recreation Participation and Fun Inventory, participant and non-participant observations, interviews, and a counselor questionnaire. The measurements of self esteem, recreation participation, and fun/pleasure were taken at three intervals, before camp, during camp and three weeks following the camp experience. The four camper case studies demonstrated that each camper experienced his/her own unique first time camp experiences.

Die vorliegende Arbeit stellt die Therapieergebnisse nach neurochirurgischer Intervention bei Patienten, behandelt aufgrund eines Tethered - Cord – Syndroms (TCS) unter besonderer Berücksichtigung des Patientenalters und des Operationszeitpunktes dar. Weiterhin wurde die Frage eines prophylaktischen Eingriffes bei asymptomatischen Patienten diskutiert. Das Göttinger Kollektiv besteht aus 51 Patienten, die sich einem erstmaligen Detethering unterzogen. Es handelt sich dabei um 30 weibliche und 21 männliche Patienten. Die Altersspanne zum Zeitpunkt der Operation liegt zwischen dem ersten Lebensmonat und dem 58. Lebensjahr. Ausgewertet wurde die prä- und postoperative Symptomatik des TCS. Zusammenfassend scheinen sowohl motorische Defizite als auch Fußdeformitäten durch die Operation statistisch nachweisbar mittels des Vorzeichentests sowie der einfaktoriellen Varianzanalyse ANOVA am prognostisch günstigsten beeinflussbar. Ein signifikanter Einfluss des Alters und des Symptombeginns konnte aufgrund der geringen Fallzahl nicht nachgewiesen werden. Es zeigt sich jedoch, dass alle asymptomatischen Patienten zum Zeitpunkt der Operation jünger als fünf Jahre alt waren. Bei keinem dieser jungen Patienten kam es im postoperativen Untersuchungszeitraum zu Symptomen. Ein frühes operatives Eingreifen nach Symptombeginn scheint ebenfalls einen prognostisch günstigen Faktor darzustellen, so konnte eine höhere Rate von Beschwerdelinderungen bei kürzer bestehen Symptomen nachgewiesen werden.

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.