The survey comprises 26 observation charts.
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1 Orofacial function of persons having Dravet syndrome Report from observation charts The survey comprises 26 observation charts. Synonyms: Severe myoclonic epilepsy of infancy, SMEI Estimated prevalence: 3 5:100,000 live births. More common in boys. Cause: Genetic, often a change to chromosome 2 (2q24.1). 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 database of the Swedish National Board of Health and Welfare. The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases. The Documentation from the Ågrenska Center. Sida 1 av 6
2 Age distribution F M : 26 Ages: 3-19 Sex: M (10) F (16) Overview Yes No Missing data A: Incomprehensible speech/no speech B: Eating and drinking difficulties¹ C: Profuse drooling, on clothes¹ D: Breathing difficulties¹ ² E: Grinding every day¹ ² F: Severe malocclusions² N 0% 25% 50% 75% 100% A: B: C: D: E: F: Ja Yes Nej No Uppgift Missing saknas data Note that the diagram is based upon less than 100 individuals. 1: Compiled using questionnaire 2: This variable was introduced in version 2 (2008) of the Observation chart. Sida 2 av 6
3 Oral health Oral health index (indices)¹ Missing data Calc Calculus GI Gingivitis Plaq Coating Toot Tooth wear N C Calculus index is based on the presence of visible calculus on the buccal surface of 6 index teeth. 0 indicates that there is no calculus at all, 6 indicates calculus on all index teeth. GI Gingivitis index is based on the presence of visible gingivitis on the buccal surface of 6 index teeth. 0 indicates that there is no bleeding, 6 indicates bleeding on all index teeth. Pl Plaque index is based on the presence of visible plaque on the buccal surface of 6 index teeth. 0 indicates that there is no plaque, 6 indicates plaque on all index teeth. To Tooth wear index is a weighted summary of the degree of tooth wear on 6 different segments. Tooth wear is only evaluated in the permanent dentition, not in the primary teeth. The final index score is based on the degree of tooth wear found in most segments. 0: 1: 2: 3: No tooth wear or minor wear of enamel in either of the segments Marked tooth wear of the enamel, possibly exceeding into dentin tooth wear in the dentine reaching up to 1/3 of the tooth crown Tooth wear in the dentine reaching up to more than 1/3 of the tooth crown. If 3 is given in any segment then SI is 3. 1: Oral health index (indices) was (were) introduced in the observations in 2008 Sida 3 av 6
4 Acceptance of dental examination 0% 35% 31% None Negative Reluctant Positive Missing data % 19% Caries 3-6 years 7-12 years years Adults deft¹ Examined 3 2 of individuals with deft=0 3 2 Mean 0,0 0,0 Standard deviation 0,0 0,0 Missing data 9 8 DMFT² Examined of individuals with DMFT=0 3 Standard deviation 0,0 Mean 0,0 Missing data 7 1: of carious or filled deciduous teeth 2: of carious or filled permanent teeth Sida 4 av 6
5 Occlusal relationship Neutral bite 8 Post normal 5 Pre normal 0 Missing data 13 Maximum jaw opening Children younger than 10 years Missing data 13 Sum: 19 Children, 10 years or older, and adults Missing data 4 Sum: 7 Profile¹ Normal 21 Convex 2 Concave 0 Missing data 3 Mandibular plane¹ Normal 20 Increased 1 Reduced 1 Missing data 4 1: This variable was introduced in version 2 (2008) of the Observation chart. Sida 5 av 6
6 Speech difficulty 19% 4% 15% No speech 4 Very incomprehensible 5 Incomprehensible speech 7 19% Slightly indistinct speech 4 No problems 5 15% Missing data 1 28% Clinical findings Yes-answers Total Boys/Men Girls/Women Missing data N=26 (%) N=10 (%) N=16 (%) Open mouth at rest 16 (62) 6 (60) 10 (63) 0 Low muscle tone in lips 15 (60) 5 (50) 10 (67) 1 Impaired tongue motility 10 (53) 3 (43) 7 (58) 7 Low muscle tone in masticatory muscles 7 (54) 4 (57) 3 (50) 13 Frontal open bite 4 (24) 1 (20) 3 (25) 9 Reduced stability in neck 3 (12) 1 (10) 2 (13) 0 Low muscle tone in tongue 3 (17) 0 () 3 (23) 8 Narrow palate 3 (17) 1 (14) 2 (18) 8 Spacing 3 (18) 1 (13) 2 (22) 9 Sida 6 av 6
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