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.

No description available.

No description available.

This research was directed at determining the value of Gestalt play therapy for the high school learner with Spina Bifida. By undertaking a literature study regarding the child with Spina Bifida, as well as Gestalt play therapy, it was possible to determine what needs and difficulties these learners experience and how Gestalt play therapy can be implemented to address these needs and difficulties. The researcher concludes that any high school learner experiences a lot of developmental changes, but for the learner with Spina Bifida there are not only the social, personal, physical and emotional changes, but also the fact that because of the disability, more support and help structures are needed. It became evident that, for these learners, Gestalt play therapy is a very effective and useful intervention technique. Learners were guided towards awareness of themselves, as well as their inner strength to face the unfinished business in their lives. / Social work / M. Diac (Play Therapy)

This research was directed at determining the value of Gestalt play therapy for the high school learner with Spina Bifida. By undertaking a literature study regarding the child with Spina Bifida, as well as Gestalt play therapy, it was possible to determine what needs and difficulties these learners experience and how Gestalt play therapy can be implemented to address these needs and difficulties. The researcher concludes that any high school learner experiences a lot of developmental changes, but for the learner with Spina Bifida there are not only the social, personal, physical and emotional changes, but also the fact that because of the disability, more support and help structures are needed. It became evident that, for these learners, Gestalt play therapy is a very effective and useful intervention technique. Learners were guided towards awareness of themselves, as well as their inner strength to face the unfinished business in their lives. / Social work / M. Diac (Play Therapy)

A study was conducted to investigate factors associated with the perceived future self-efficacy in adolescents with spina bifida. Thirteen adolescents with spina bifida and their parents were surveyed. Seventeen adolescents without an identified disability and their parents were also surveyed. The Questionnaire of Future Adult Activities (QFAA) and the Health Attribution Test (HAT) were administered. Parent responses were compared to those of adolescents and adolescent responses were compared between groups. There was no overall correlation between parent and adolescent responses. Differences were found between responses of adolescents with spina bifida and adolescents without an identified disability. Limited correlations were found between the QFAA and the HAT.

Childhood obesity and resulting secondary complications in youth with disabilities are occurring in epidemic proportions, due in part to a trend of physical inactivity. The purpose of this study is to report the prevalence of overweight, the leisure time activity patterns, and the association between frequency of physically active leisure participation and body mass index for age, in a sample of 50 youth with spina bifida, ages 4.5 to 17.9 years. Results indicate that 52% of the sample are classified as at risk of overweight or overweight; 36% were male and 16% were female. The top five leisure time activities and team sport participation are identified. Subjects who did not use a wheelchair for ambulation participated significantly more in physically active leisure than subjects who used a wheelchair. Future research and rationale for physically active leisure as an intervention for youth with spina bifida are discussed.

Le Spina Bifida est une maladie congénitale rare due à anomalie de fermeture du tube neural ayant des conséquences physiques et fonctionnelles multiples. La prise en charge des séquelles digestives du Spina Bifida ne fait l’objet d’aucun consensus national ou international. Les objectifs de cette thèse translationnelle étaient de caractériser les plaintes anorectales des patients adultes ayant un Spina Bifida, d’en préciser les mécanismes physiopathologiques sous-jacents à partir des données de la manométrie anorectale et du barostat rectal et en étudiant les fonctions de la barrière épithéliale intestinale. Les plaintes anorectales des patients adultes ayant un Spina Bifida représentent leur deuxième plainte en terme de fréquence et sont l’incontinence fécale, et la constipation. Ces troubles peuvent évoluer au cours du temps ce qui justifie un suivi digestif au long cours. Le niveau lésionnel neurologique n’est ni associé aux troubles digestifs ni à à leur évolution. Les patients ayant un Spina Bifida ont une atteintede la fonction anale (défaut de contraction) et des fonctions rectales (diminution du tonus et de la compliance rectale). Ils ont également une hyperperméabilité paracellulaire et une diminution de la densité du tissu conjonctif; ces 2 anomalies étant corrélées entre elles. L’augmentation de la perméabilité paracellulaire était négativement corrélée avec la compliance rectale. Enfin, les patients ayant un Spina Bifida ont une augmentation de l’expression de TGFBeta1. Les anomalies des fonctions anorectales et de la barrière épithéliale intestinale pourraient être des cibles thérapeutiques potentielles dans la prise en charge des troubles anorectaux des patients adultes ayant un Spina Bifida. / Spina Bifida is a rare congenital disorder caused by an abnormal neural tube closure with multiple physical and functional consequences. The management of the digestive disorders of Spina Bifida is not consensual. The objectives of this present work were to characterize the anorectal complaints of adult patients with Spina Bifida, to specify the underlying pathophysiological mechanisms from the data of anorectal manometry and rectal barostat and to study the functions of the intestinal epithelial barrier. The anorectal complaints of adult patients with Spina Bifida represent their second complaint and are faecal incontinence and constipation. These disorders can change over time which justifies long-term digestive follow-up. The level of neurological lesion is neither associated with digestive disorders nor with their evolution. Patients with Spina Bifida have impaired anal function (lack of contraction) and rectal function (decreased tone and rectal compliance). They also have paracellular hyperpermeability and decreased connective tissue density ; these 2 anomalies are interrelated. The increase in paracellular permeability was negatively correlated with rectal compliance. Finally, patients with Spina Bifida have an increased expression of TGFBeta1. Abnormalities of anorectal function and intestinal epithelial barrier may be potential therapeutic targets in the management of anorectal disorders in adult patients with Spina Bifida.