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. A control group of 135 healthy children was included. Oromotor impairment was a frequent finding (43%) and was absent among the controls. Half the children in the youngest age group (3-6 years) had moderate/severely affected intelligibility or no speech compared with one-third in the other age groups. The most frequent eating difficulties were related to chewing and were found in approximately 20% of the individuals in the study group. Artificial nutrition was most common in children aged 3-6 years (9·2%), followed by children aged 7-12 years (4·9%), adolescents aged 13-19 years (3·3%) and adults (1·4%). Impaired saliva control was common (31·2%) and strongly and significantly correlated with oromotor dysfunction, intellectual disability, open mouth at rest and epilepsy. In conclusion, oromotor impairment and oro-facial dysfunctions, such as affected intelligibility, eating difficulties and impaired saliva control, are frequent in individuals with rare diseases. There is a strong correlation between oromotor impairment and affected intelligibility, eating difficulties and impaired saliva control in individuals with rare diseases.

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. Mental retardation and autism have been reported in some. The aim of this study was to describe orofacial dysfunction observed in a prospective, multidisciplinary study of individuals with Möbius sequence. METHODS: Twenty-five patients with Möbius sequence, aged 2 months to 54 years, participated in the study. Clinical observations by different medical specialists were collected in an established database. Dentists and a speech pathologist made the orofacial examination. The parents or the patient described orofacial function and dysfunction through interviews and a questionnaire. RESULTS: Bilateral facial palsy was observed in 16 patients, unilateral palsy in 9. Observed orofacial anomalies were tongue dysfunction (16), micrognatia (8), microglossia (7), cleft palate (4), and cleft lip (1). Seventeen had speech problems, 16 reported feeding difficulties in infancy, 14 eating problems, and 8 drooling. CONCLUSIONS: Orofacial problems are common in Möbius sequence and have a significant impact on the quality of life for the patient and for the whole family. Early intervention by a speech pathologist and a paediatric dentist should be undertaken to improve orofacial function and symptoms. Plastic surgery, oral motor training, facial massage, speech therapy, and orthodontic treatment are some of the therapy methods that can be considered.