Orofacial function of persons having. Report from questionnaires. Dravet syndrome. Synonyms: Severe myoclonic epilepsy of infancy, SMEI
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1 Orofacial function of persons having Dravet syndrome Report from questionnaires The survey comprises questionnaires. Synonyms: Severe myoclonic epilepsy of infancy, SMEI Estimated prevalence: 5:, live births. More common in boys. Cause: Genetic, often a change to chromosome 2 (2q2.). Heredity is autosomal dominant, but in most cases, the disease is caused by a de novo mutation. General symptoms: Epileptic seizures appear during the first year of life. The children suffer from repeated clonic or tonic-clonic protracted seizures triggered by fever, and affecting consciousness. As time goes by, the seizures become more easily triggered (not just triggered by fever), and can occur so close together that the child doesn t regain consciousness between seizures. Different types of seizures may also emerge. From around the age of two, the children develop symptoms like developmental disabilities, motor skill difficulties, hyperactivity, communication difficulties and behavioural abnormalities. Other common symptoms are sleep disorders, infection susceptibility, affected growth, and forwardleaning, stiff walking. The condition improves and stabilises from age four or five. Orofacial/odontological symptoms: Children suffering from Dravet syndrome can get their teeth slightly late, and a small number of children experience dental development disruptions, which results in teeth of smaller size and different shape. Teeth grinding is common. The epileptic seizures increase the risk of dental injury. Many take medicines that can have side effects such as dry mouth, heartburn, vomiting and increased bleeding tendency. Oral motor skills can be affected, resulting in difficulties eating and speaking, and reduced saliva control. Orofacial/odontological treatment: Early contact with dental services for intensified prophylactic care and oral hygiene information is essential. Tooth grinding should be followed up, and be managed with a splint when necessary. When treating medically compromised patients always contact their doctor for medical advice (bleeding problems, heart diseases etc). Speech, language and communication training are often required. Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre. Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and impaired saliva control may be necessary. Source The rare disease base of the Swedish National Board of Health and Welfare. The MHC base - The Mun-H-Center base on oral health and orofacial function in rare diseases. The Documentation from the Ågrenska Center. Sida av 7
2 Age distribution F M : Ages: - 9 Sex: M () F (7) Additional diagnoses Medical impairment Inborn heart defect 2 Other cardiovascular disease 2 Epilepsy Asthma 5 2 Need of respiratory support 5 9 Allergy 5 2 Neuropsychiatric diagnosis ADHD/ADD 2 Autistic syndrome 2 2 Autistic traits Asperger s syndrome 25 Tourette s syndrome 2 General disability Intellectual disability Mobility dysfunction 2 5 Impaired vision 2 Impaired hearing 2 2 Difficulty in communicating Sida 2 av 7
3 About dental care and oral health Do you feel that you receive the dental care you need?, not really, not at all 7 8 How many times per year do you normally seek dental care? Three or more times per year Twice per year Once per year Less than once per year 7 When were your teeth last X-rayed? During the past two years More than two years ago Never had my teeth X-rayed 5 Sida av 7
4 Do you look after your teeth in a good way?, not really, not at all Who brushes your teeth? I always brush myself Sometimes I brush myself Someone else always helps me 22 How often are your teeth brushed? Three or more times per day Twice per day Once per day t every day 7 5 Sida av 7
5 About dental care and oral health Does your mouth hurt? Does your mouth feel dry? Have you ever taken a serious hit to your permanent front teeth? Do you feel that you have a divergent bite? Have you had a brace? Do you feel that you need orthodontics/a brace? Do you grind or press your teeth at night? Never Once or twice per week Every night Do you grind or press your teeth during the day? Never Once or twice per week Every day 2 Sida 5 av 7
6 About eating Do you have any problems with eating? % 7% % 22%, not really 7, not at all 9 2 2% Do you cough daily in connection with meals? Do you gag daily in connection with meals? Do you get acid reflux daily? Do you throw up often (at least twice per week)? Do you have a poor appetite? Does it take a long time before you can swallow a mouthful? Do you press your tongue forward when you swallow so that food ends up outside the mouth? Do you find it difficult to chew, i.e. grind food using your molars? Do you find it difficult to take food from the spoon using your lips? Have you had problems with food and drink leaking out through the corners of your mouth? Does food tend to remain in your mouth after meals? Do you get nutrition in any other way than through your mouth? Sida av 7
7 Do you drool? About drooling Never drool Drool sometimes not every day Drool often every day Constant drooling 5 7 How much do you drool? Slight drooling, only on the lips Moderate drooling, on lip and chin 2 Profuse drooling, on clothes 5 Very profuse drooling, on hands/objects 2 Is your drooling a problem for you?, not really, not at all 2 2 Is your drooling a problem for your family or people around you?, not really, not at all 2 Sida 7 av 7
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