Hereditary spastic paraplegia Report from questionnaires

Transcription

1 Orofacial function of persons having Hereditary spastic paraplegia Report from questionnaires The survey comprises 6 questionnaires. Synonyms: Hereditary Spastic Paraplegia, Strumpell-Lorraine Syndrome Estimated occurrence: Very rare. Etiology: Genetic. Hereditary spastic paraplegia (HSP) consists of a number of subgroups with similar symptoms. A variety of inheritance patterns are represented. In persons with HSP, a gradual degeneration of motor neural structures takes place. General symptoms: Spasticity and insidiously progressive muscle weakness that primarily affects gait pattern. Spasticity may lead to foot deformities. Arm and hand function are often unaffected. Unstable balance and ataxia (impaired control of voluntary movements) occur. Other symptoms that may be associated with HSP include speech difficulties, visual impairment, learning disability, epilepsy and urinary symptoms. Symptom onset occurs between and 4 years of age. Orofacial/odontological symptoms: Oral motor function may also be affected in HSP and produce symptoms such as eating difficulties, speech difficulties (dysarthria) and drooling. There are no known specific odontological symptoms associated with HSP. Orofacial/odontological treatment: Speech and language impairments are to be diagnosed and treated by a speechlanguage pathologist Oral motor training and stimulation may be relevant in cases of eating difficulties, speech impairment and drooling Sources 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 4 F M : 6 Ages: 6-8 Sex: M (9) F (7) Additional diagnoses Medical impairment Inborn heart defect 6 Other cardiovascular disease 6 Epilepsy 6 Asthma 6 Need of respiratory support 6 Allergy 5 Neuropsychiatric diagnosis ADHD/ADD 5 Autistic syndrome 5 Autistic traits 4 Asperger s syndrome 5 Tourette s syndrome 5 General disability Intellectual disability 4 Mobility dysfunction 3 Impaired vision Impaired hearing 3 3 Difficulty in communicating 4 Sida av 7

3 About dental care and oral health Do you feel that you receive the dental care you need?, very much so, some what, not really, not at all 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 When were your teeth last X-rayed? During the past two years More than two years ago Never had my teeth X-rayed 3 6 Sida 3 av 7

4 Do you look after your teeth in a good way?, very much so, some what, not really, not at all Who brushes your teeth? I always brush myself Sometimes I brush myself Someone else always helps me 3 6 How often are your teeth brushed? Three or more times per day Twice per day Once per day t every day 6 Sida 4 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 3 6 Do you grind or press your teeth during the day? Never Once or twice per week Every day 4 6 Sida 5 av 7

6 About eating Do you have any problems with eating? % 6% 6%, very much so, some what, not really, not at all % 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 6 av 7

7 Do you drool? About drooling Never drool Drool sometimes not every day Drool often every day Constant drooling 4 6 How much do you drool? Slight drooling, only on the lips Moderate drooling, on lip and chin Profuse drooling, on clothes Very profuse drooling, on hands/objects Is your drooling a problem for you?, very much so, some what, not really, not at all Is your drooling a problem for your family or people around you?, very much so, some what, not really, not at all Sida 7 av 7