Orofacial function of persons having Turner syndrome Report from questionnaires The survey comprises questionnaires. Estimated occurrence: : girls born. Etiology: Girls with Turner syndrome are either missing one X chromosome (4,X) or part of it. Sometimes parts of the body have normal cells that contain two X chromosomes, while other cells are missing one X chromosome (mosaicism). There are also variants in which girls may have three X chromosomes, two of which are normal length and the third shorter. Why this chromosomal aberration occurs is not known today. Turner syndrome is not hereditary. General symptoms: Short stature. Many of these girls have loss of ovarian function and they often do not enter puberty. Cardiac defects are common. Often there are frequent ear infections. Learning disability and behavioral problems can sometimes occur. Orofacial/odontological symptoms: Characteristic facial features are associated with the diagnosis. In contrast to skeletal development, which tends to be delayed by more than two years, dental development tends to be early, and teeth may erupt earlier than normal. Teeth may have shape aberrations. The most common anomalies relate to the proportions between the root and the crown of the teeth, with relatively short roots on the incisors, canines and premolars. Teeth may be small, with thin enamel. There are reports of arched palate and a small lower jaw. Various malocclusions may occur, with a particular frequency of post normal bite and cross bite. Malocclusions appear early. Feeding problems are common during the first years of life. Some girls have difficulties with speech and language acquisition. Women who have not been treated with growth hormone can have a high pitched voice. Orofacial/ odontological treatment: Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed. A specialist in pediatric dentistry or orthodontia may be a useful resource in this respect, and should also be consulted if treatment with growth hormone is being considered There are special intervention programs for children with Turner syndrome, with a focus on odontology. Tooth age determination is recommended as part of the diagnostic workup. Anomalies beyond SD indicate that the child should be referred to a physician for further examination. Children with eating disorders often required extra dental care, including assistance with oral hygiene and fluoride treatments. Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre. Speech and language difficulties should be diagnosed and treated by a speech therapist When treating medically compromised patients always contact their doctors for medical advice. Source: The MHC base - The Mun-H-Center base on oral health and orofacial function in rare diseases. The Documentation from the Ågrenska Center.The intervention program for Turner syndrome,, published by the Swedish Turner Academy. Sida av 7
Age distribution F M 8 3 3-6 7-9 - - 6-9 - 9 3-39 4-49 - : Ages: 3-7 Sex: M () F () Additional diagnoses Medical impairment Inborn heart defect 4 Other cardiovascular disease 9 Epilepsy 9 Asthma 8 Need of respiratory support 9 Allergy 3 6 Neuropsychiatric diagnosis ADHD/ADD 8 Autistic syndrome 7 Autistic traits 3 Asperger s syndrome 8 Tourette s syndrome 9 General disability Intellectual disability 7 Mobility dysfunction 7 Impaired vision 6 Impaired hearing 4 Difficulty in communicating 3 Sida av 7
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 9 6 When were your teeth last X-rayed? During the past two years More than two years ago Never had my teeth X-rayed 6 Sida 3 av 7
Do you look after your teeth in a good way?, very much so, some what, not really, not at all 7 Who brushes your teeth? I always brush myself Sometimes I brush myself Someone else always helps me 8 7 How often are your teeth brushed? Three or more times per day Twice per day Once per day t every day Sida 4 av 7
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? 7 3 7 4 4 6 3 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 7 Sida av 7
About eating Do you have any problems with eating? % % % %, very much so, some what, not really, not at all 6% 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? 9 8 9 4 6 3 6 9 7 8 9 Sida 6 av 7
Do you drool? About drooling Never drool Drool sometimes not every day Drool often every day Constant drooling 8 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