Oral health and oromotor function in rare diseases--a database study.

The aim was to study oral health and oromotor function in individuals with rare diseases. A disease is defined as rare when it affects no more than 100 individuals per million population and leads to a marked degree of disability. An affected nervous or musculoskeletal system, cognitive impairment, neuropsychiatric disorders and craniofacial malformations are common in rare diseases and may all be risk factors for oral health and oromotor function.

Speech, eating and saliva control in rare diseases - a database study.

The aim was to study the background to and the manifestations of affected intelligibility of speech and reported difficulty with eating and saliva control in rare diseases. In Sweden, a disease or disorder is defined as rare when it affects no more than 100 individuals per million population and leads to a marked degree of disability. In 1996-2008, 1703 individuals with 169 rare diseases (3-67 years) answered a questionnaire about oral health and oro-facial function and 1614 participated in a clinical examination.

Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.

Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events.

Ehlers-Danlos Syndrome (EDS) focusing on oral symptoms: a questionnaire study.

Objectives: To study the prevalence of oral problems reported among a large group of adults with Ehlers-Danlos Syndrome (EDS). Furthermore, to compare proportions of disorders and general psychological well-being with those in a cohort of randomized population-based controls.

Design: A questionnaire study.

Development of speech, feeding, eating, and facial expression in Möbius sequence.

Objective: Möbius sequence is a rare congenital disorder with the primary diagnostic criteria of congenital facial and abducens nerve palsy. Involvement from other cranial nerves is common. Orofacial anomalies and limb malformations may be associated with the disorder.