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Nordgarden H.,National Resource Center for Oral Health in Rare Medical Conditions | Osterhus I.,Lovisenberg Diakonale Hospital | Moystad A.,University of Oslo | Moystad A.,Malmo University | And 4 more authors.
Journal of Child Neurology | Year: 2012

There are several treatment options available for drooling; botulinum toxin injections into the major salivary glands are one. There is no consensus as to how many and which glands should be injected. A research project on this topic was terminated because of adverse effects. Individual results and the adverse effects are described and discussed in this article. Six individuals with cerebral palsy were randomly allocated to 2 treatment groups, with five individuals receiving ultrasound-guided injections to parotid and submandibular glands and one receiving injections to the submandibular glands only. Reduction of observed drooling was registered in 3, while 4 patients reported subjective improvement (Visual Analog Scale). Two participants reported adverse effects, including dysphagia, dysarthria, and increased salivary viscosity. Injections with botulinum toxin can be a useful treatment option but there is a risk of adverse effects. Multidisciplinary evaluation and informed discussions with patients/caregivers are important factors in the decision-making process. © The Author(s) 2012. Source

Wang C.H.,Stanford University | Bonnemann C.G.,Childrens Hospital of Philadelphia | Rutkowski A.,Cure CMD | Sejersen T.,Karolinska Institutet | And 36 more authors.
Journal of Child Neurology | Year: 2010

Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee. © 2010 The Author(s). Source

Wang C.H.,Stanford University | Dowling J.J.,University of Michigan | North K.,University of Sydney | Schroth M.K.,University of Wisconsin - Madison | And 30 more authors.
Journal of Child Neurology | Year: 2012

Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/ nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee's recommendations for symptom assessments and therapeutic interventions. It is the committee's goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome. © The Author(s) 2012. Source

Jensen J.L.,University of Oslo | Jensen J.L.,National Resource Center for Oral Health in Rare Medical Conditions | Album B.,University of Oslo
Oral Surgery | Year: 2011

In children, autotransplantation has been an accepted treatment alternative in the Scandinavian countries for decades in cases of agenesis or trauma. When working with children with rare syndromes, lackof teeth is often so pronounced that there are no teeth available fortransplantation. Even so, sometimes there are retained teeth that canbe transplanted! Here we present two patients with rare syndromes in which a retained tooth was transplanted. In both cases, neither thedonor tooth nor the recipient site was ideal for transplantation. The first case is a girl with incontinentia pigmenti, 15 years old at the time of transplantation, and the second case is a boy with severecherubism, aged 9.5 years at the time of transplantation. In the first case, a second molar with multiple roots retained at a mesial angleto the first molar in the upper jaw was transplanted to an infectedsite. In the second case, a retained first premolar in the upper jawwas transplanted to a cystic lesion. In both patients, the profit intheeventof a successful transplantation was so great, that an attempt was made in spite of the negative circumstances. Both teeth were successfully transplanted and have been followed for more than 2 years with no ankylosis or pulp necrosis developing.We conclude that in achild with multiple missing teeth, the conventional rules of transplantation maybe stretched. © 2010 John Wiley & Sons A/S. Source

Prescott T.,University of Oslo | Redfors M.,University of Oslo | Redfors M.,National Resource Center for Oral Health in Rare Medical Conditions | Rustad C.F.,University of Oslo | And 4 more authors.
European Journal of Medical Genetics | Year: 2013

Bilateral multilocular radiolucencies of the mandible are the main feature of cherubism (OMIM #. 118400), a rare autosomal dominant disorder primarily affecting the jaw. Typically, symmetrical swelling of the lower face is evident from around three years of age and increases until puberty. The underlying radiolucent lesions consist of vascular fibrotic stroma with scattered multinuclear giant cells. By age 30 years the facial contours are often unremarkable. Missing and displaced teeth as well as premature tooth loss are characteristic. Diagnosis rests upon a combination of clinical, radiographic, histological and molecular findings. SH3BP2 is currently the only gene known to be associated with cherubism. This cross-sectional study describes oral manifestations, quality of life and results of mutation analysis of SH3BP2 in 11 females and 13 males ages five to 84 years with cherubism. One individual with molecularly confirmed Noonan syndrome was excluded from the cohort. Standard statistical tools were used to analyze quality of life data. Mutation analysis was positive in all 22 familial and negative in both sporadic cases. Disease manifestations in mutation carriers varied from none to severe. Although intra-familial variability was marked, we found no evidence of non-penetrance, and females were on average more severely affected than males. Dental sequelae were pronounced; adults lacked a mean of 13 teeth (range 2-28), 13 of 17 individuals aged 16 years and older had removable or fixed dentures and five had dental implants; implant survival rate was 79%. In spite of pronounced disease manifestations and dental sequelae, adult quality of life was good. © 2013 Elsevier Masson SAS. Source

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