Open Bite Malocclusion and Orofacial Dysfunction in Patients with Myotonic Dystrophy Type 1 and Duchenne Muscular Dystrophy.

Open bite (OB) is a common malocclusion in individuals with orofacial dysfunction and syndromes, especially in neuromuscular diseases. OBJECTIVES: The objectives were to explore the prevalence of OB in myotonic dystrophy type 1 (DM1) and Duchenne muscular dystrophy (DMD) and to create and compare orofacial dysfunction profiles. METHODS: In this database study, 143 individuals with DM1 and 99 with DMD were included. The Mun-H-Center questionnaire and observation chart were used together with the Nordic Orofacial Test -Screening (NOT-S) to create orofacial dysfunction profiles. OB was categorised as: lateral (LOB); anterior (AOB); severe anterior (AOBS); or both types of anterior OB (AOBTot). Descriptive and multivariate statistics were used to compare the OB prevalence and to study associations with orofacial variables, respectively. RESULTS: There was a statistically significant difference in OB prevalence between the DM1 (37%) and DMD (49%) groups (p = 0.048). LOB was seen in < 1% of DM1 and 18% of DMD. LOB was associated with macroglossia and closed mouth posture, AOB with hypotonic lips, and open mouth posture and AOBS with hypotonic jaw muscles. The orofacial dysfunction profiles showed similar patterns, although the mean NOT-S total scores for DM1 and DMD were 4.2±2.8 (median 4.0, min-max 1-8) and 2.3±2.0 (median 2.0, min-max 0-8), respectively. LIMITATIONS: The two groups were not age- or gender-matched. CONCLUSION: OB malocclusion is common in patients with DM1 and DMD and is associated with different types of orofacial dysfunction. This study highlights the need for multi-disciplinary assessments to support tailored treatment strategies that improve or sustain orofacial functions.

Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech - A Review of the Literature from January 1998 to August 2021.

BACKGROUND: The knowledge about the impact of oral motor impairment in neuromuscular diseases (NMDs) is limited but increasing. OBJECTIVE: The aim of this review was to collect and compile knowledge on how muscle weakness in congenital or early developing NMDs directly or indirectly affects feeding, swallowing, speech and saliva control. METHODS: A literature search was performed in PubMed from January 1, 1998, to August 31, 2021. The keywords "feeding", "dysphagia", "swallowing", "dysarthria", "speech", "drooling" and "sialorrhea" were used in combination with "paediatric neuromuscular disease" or specific diagnoses. RESULTS: Sixty-five studies were selected for the review, 33 focused on feeding and swallowing, 11 on speech, four on a combination of feeding, swallowing, saliva control or speech and 17 general descriptions. Most of the studies reported on patients with a disorder affecting muscles. These studies show that muscle weakness and impaired motility affecting the muscles innervated by the cranial nerves may influence feeding, swallowing, and speech, and that respiratory function, general health and neurodevelopmental delay also influence these functions. Feeding impairment and breathing difficulties are common in NMDs. Lifesaving interventions such as tube feeding and ventilatory support are common in severe cases. CONCLUSIONS: Feeding impairment, dysphagia and dysarthria are prevalent in NMDs with congenital or early age of onset. Feeding and swallowing has been studied more than speech and saliva control. More children with NMD survive thanks to new treatment options and it is therefore urgent to follow up how these therapies may impact the development of feeding, swallowing, and speech.

Children and adolescents with speech sound disorders are more likely to have orofacial dysfunction and malocclusion.

BACKGROUND: Children with speech sound disorders (SSD) form a heterogeneous group that differs in terms of underlying cause and severity of speech difficulties. Orofacial dysfunction and malocclusions have been reported in children with SSD. However, the association is not fully explored. OBJECTIVES: Our aims were to describe differences in orofacial function and malocclusion between a group of children and adolescents with compared to without SSD and to explore associations between those parameters among the group with SSD. METHODS: A total of 105 participants were included, 61 children with SSD (6.0-16.7 years, mean age 8.5 ± 2.8, 14 girls and 47 boys) and 44 children with typical speech development (TSD) (6.0-12.2 years, mean age 8.8 ± 1.6, 19 girls and 25 boys). Assessments of orofacial function included an orofacial screening test and assessment of bite force, jaw stability, chewing efficiency, and intraoral sensory-motor function. Possible malocclusions were also assessed. RESULT: Children with SSD had both poorer orofacial function and a greater prevalence of malocclusion than children with TSD. Furthermore, children with SSD and poorer orofacial function had a greater risk of malocclusion. CONCLUSION: Our result suggests that children with SSD are more prone to having poorer orofacial function and malocclusion than children with TSD. This illustrates the importance of assessing coexisting orofacial characteristics in children with SSD, especially since orofacial dysfunction may be linked to an increased risk of malocclusion. This result highlights the need for a multiprofessional approach.

Effects of oral screen exercise on orofacial and pharyngeal activity: An exploratory study using videofluoroscopy and surface electromyography in healthy adults.

OBJECTIVE: The oral screen is a device commonly used for treatment of orofacial disorders. The objective of this exploratory study was to examine the effect of oral screen exercise on the muscle activity in the lips, submental complex, masseter muscle, and kinematic activity of the tongue base, soft palate, pharynx, and larynx in healthy adults. This was compared with the kinematic activity during a dry swallow. It was hypothesized that not only the lip musculature but also other structures in the oral and pharyngeal cavities are activated while using an oral screen device. METHOD: Ten healthy subjects used an oral screen during examination with videofluoroscopy and surface electromyography (EMG). Three different instructions for oral screen application and a dry swallow were examined. RESULTS: The lip muscles showed the highest activity during oral screen exercise. The other muscle groups were activated to a lesser degree. The pattern of activation differed between individuals. Compared with a dry swallow, the range of motion of the tongue base, posterior pharyngeal wall, and the larynx was significantly smaller during oral screen activation. No major differences were found between three different instructions. CONCLUSION: This study indicates that the lips and submental complex and, to a lesser degree, oral, pharyngeal, and laryngeal structures are activated with the oral screen, but the pattern of activation varied between individuals. In comparison to the activity during a dry swallow, range of motion during oral screen exercise is small.

Range of motion (ROM) in the lips and jaw during vowels assessed with 3D motion analysis in Swedish children with typical speech development and children with speech sound disorders.

PURPOSE: The aim was to compare movement patterns of lips and jaw in lateral, vertical and anteroposterior directions during vowel production in children with typical speech development (TSD) and in children with speech sound disorders (SSD) persisting after the age of six. METHODS: A total of 93 children were included, 42 children with TSD (6:0-12:2 years, mean age 8:9 ± 1:5, 19 girls and 23 boys) and 51 children with SSD (6:0-16:7 years, mean age 8:5 ± 3:0, 14 girls and 37 boys). Range of motion (ROM) in lips and jaw in the vowels [a, ʊ, ɪ] produced in a syllable repetition task and median values in resting position were measured with a system for 3D motion analysis. The analysis was based on the coordinates for the mouth corners and the chin centre. RESULTS: There were significant differences between the groups on movements in lateral direction in both lips and jaw. Children with TSD had generally smaller and more, symmetrical movements in the lips and jaw, in all three dimensions compared to children with SSD. There were no significant differences between the groups in resting position. CONCLUSION: Children with SSD persisting after the age of six years show more asymmetrical and more variable movement patterns in lips and jaw during vowel production compared with children with TSD in a simple syllable repetition task. Differences were more pronounced in lateral direction in both lips and jaw.

Occlusal traits and longitudinal dental changes in children and adolescents with congenital or childhood onset myotonic dystrophy.

BACKGROUND/OBJECTIVES: This research aimed to study the malocclusions of children and adolescents with myotonic dystrophy type 1 (DM1), in respect to healthy individuals, and trace the occlusal changes that occurred in these individuals during growth. MATERIALS/METHODS: Thirty-six dental casts, from children and adolescents with DM1 living in western and southern Sweden, were compared with a control group of 50 healthy individuals. To identify potential changes in occlusal traits, 26 casts were assessed and followed-up over a median time of 9 years. Independent samples t-tests were used to compare the two groups and their changes over time. Paired samples t-tests tested changes over time within each group (P < 0.05). RESULTS: DM1 patients had a higher prevalence of anterior open bite, posterior crossbite, and Class III malocclusions. When compared to controls, patients presented smaller upper and lower intermolar as well as intercanine widths. In both groups, the individuals revealed longitudinal changes with a decrease in both upper and lower arch lengths and an increase on the palatal vault height. During the follow-up period, the prevalence of malocclusions remained almost the same, only significantly differing regarding the changes that occurred between groups referred to the upper intermolar width, which decreased among DM1 patients. CONCLUSIONS/IMPLICATIONS: In comparison to healthy controls, children and adolescents with DM1 have shown already at an early age a higher prevalence of both anterior open bite and posterior crossbite. These occlusal traits did not change with time apart from the upper narrow intermolar width, which further decreased with time.

Gastrostomy tube insertion in children with developmental or acquired disorders: a register-based study.

AIM: To describe trends in gastrostomy tube insertion in children with developmental or acquired disorders in Sweden and assess their demographic characteristics. METHOD: Children aged 0 to 18 years with gastrostomy tube insertions recorded between 1998 and 2014 were identified in the Swedish National Patient Register. Associations between disorder type and year of surgery, as well as age at surgery, were analysed using linear regression analyses. The association between disorder type and mortality 2 years from gastrostomy tube insertion was also analysed using logistic regression analysis. RESULTS: The data for 4112 children (2182 males, 1930 females), with a median age of 2 years (interquartile range=1-8y), were analysed. Children who presented with developmental disorders were the largest group (n=3501, 85%). The most common diagnosis in children with developmental disorders was cerebral palsy (n=165, 4%). In children with acquired disorders, acute lymphoblastic leukaemia (n=117, 3%) was the most common diagnosis. Gastrostomy tube insertions increased from 1998 to 2014, with the greatest increase in children with developmental disorders, who were younger than children with acquired disorders when the gastrostomy tube was first inserted. Age at tube insertion decreased in both groups during the study period. Mortality was higher in children with acquired disorders, suggesting that gastrostomy tube insertion should be part of a palliative care approach. INTERPRETATION: Child characteristics differed depending on whether the underlying disorder was developmental or acquired, suggesting a need for clinical health care guidelines related to the specific goals of gastrostomy tube insertion. WHAT THIS PAPER ADDS: Gastrostomy tube insertions increased by 140% from 1998 to 2014 in Sweden. The age of children with developmental disorders decreased by 1 month per year during the study period. Children presenting with developmental disorders were younger than children with acquired disorders when the gastrostomy tube was first inserted. Mortality was higher in children with acquired disorders.

Orofacial function in children with Speech Sound Disorders persisting after the age of six years.

Purpose: The aim was to investigate, describe and analyse speech characteristics, intelligibility, orofacial function and co-existing neurodevelopmental symptoms in children with SSD of unknown origin, persisting after six years of age.Method: The study included 61 children with SSD (6-17 years) of unknown origin, referred for a speech and oral motor examination. The severity of SSD was estimated using Percentage Consonants Correct (PCC) and Percentage Vowels Correct (PVC) and assessments of resonance based on Swedish Articulation and Nasality Test (SVANTE). Orofacial function was screened using the Nordic Orofacial Test-Screening (NOT-S). Parents completed the Intelligibility in Context Scale (ICS) and a questionnaire including questions about heredity, medical and neurodevelopmental conditions, and speech development.Result: SSD varied according to PCC (8-95%) and PVC (55-100%) measurements. Percentages of co-occurring disorders included: 51% resonance deviations, 90% intelligibility issues, and 87% orofacial difficulties. The most affected orofacial domains were "Chewing and swallowing" (41%), "Masticatory muscles and jaw function" (38%) and "Sensory function" (38%). The majority (64%) had co-existing dysfunctions relating to general motor and neurodevelopmental disorders.Conclusion: Children with persistent SSD are at risk for orofacial dysfunction, general motor difficulties and other neurodevelopmental disorders and therefore should be screened for co-occurring disorders.

Oral Sensory-Motor Intervention for Children and Adolescents (3-18 Years) With Dysphagia or Impaired Saliva Control Secondary to Congenital or Early-Acquired Disabilities: A Review of the Literature, 2000 to 2016.

OBJECTIVES:: Dysphagia and impaired saliva control are common in children and adolescents with congenital and developmental disabilities. The aim of the present review was to investigate the evidence base for oral sensory-motor interventions in children and adolescents with dysphagia or impaired saliva control secondary to congenital or early-acquired disabilities and to make recommendations regarding methods for intervention. METHODS:: A review of the literature from 2000 to 2016, including oral sensory-motor intervention studies for children and adolescents (3-18 years of age) with dysphagia or impaired saliva control secondary to congenital or early-acquired disabilities, was performed. The literature search included the PubMed, CINAHL, Medline, SpeechBITE, OVID, ERIC, Cochrane, and Google Scholar databases. Primary studies were evaluated on a 4-grade scale using the Grading of Recommendations Assessment, Development and Evaluation. RESULTS:: Twenty primary studies of oral sensory-motor interventions for dysphagia and 6 studies for the treatment of impaired saliva control fulfilled the inclusion criteria. Of these, 3 were randomized, controlled trials. Five systematic reviews and 16 narrative reviews were also included. Limited and moderately strong recommendations were made on the basis of the grading results from the primary studies. The studies reported good results, but study design was often insufficient, and the study groups were small. The systematic reviews confirmed the lack of high scientific support for oral sensory-motor interventions in children and adolescents with congenital and developmental disabilities. CONCLUSIONS:: There is an urgent need for high-quality studies that could serve as the basis for strong recommendations relating to oral sensory-motor interventions for children with dysphagia and impaired saliva control.

Gastrostomy Tube Feeding in Children With Developmental or Acquired Disorders: A Longitudinal Comparison on Healthcare Provision and Eating Outcomes 4 Years After Gastrostomy.

BACKGROUND: Studies on long-term feeding and eating outcomes in children requiring gastrostomy tube feeding (GT) are scarce. The aim of this study was to describe children with developmental or acquired disorders receiving GT and to compare longitudinal eating and feeding outcomes. A secondary aim was to explore healthcare provision related to eating and feeding. METHODS: This retrospective cohort study reviewed medical records of children in 1 administrative region of Sweden with GT placement between 2005 and 2012. Patient demographics, primary diagnoses, age at GT placement, and professional healthcare contacts prior to and after GT placement were recorded and compared. Feeding and eating outcomes were assessed 4 years after GT placement. RESULTS: The medical records of 51 children, 28 boys and 23 girls, were analyzed and grouped according to "acquired" (n = 13) or "developmental" (n = 38) primary diagnoses. At 4 years after GT placement, 67% were still using GT. Only 6 of 37 (16%) children with developmental disorders transferred to eating all orally, as opposed to 10 of 11 (91%) children with acquired disorders. Children with developmental disorders were younger at the time of GT placement and displayed a longer duration of GT activity when compared with children with acquired disorders. CONCLUSIONS: This study demonstrates a clear difference between children with developmental or acquired disorders in duration of GT activity and age at GT placement. The study further shows that healthcare provided to children with GT is in some cases multidisciplinary, but primarily focuses on feeding rather than eating.

Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy.

Background/objectives: This study investigated the craniofacial morphology of young individuals with congenital or childhood onset myotonic dystrophy type 1 (DM1) compared to healthy subjects. The study also followed growth changes in their facial morphology over a 5-year period. Materials/methods: Lateral cephalograms of the 26 subjects (young patients with DM1 from west and south Sweden) were taken at baseline and after a 5-year period. These radiographs were compared with normal standards based on healthy individuals from the Michigan Growth Study, according to their age and sex, using paired t-tests (P < 0.05). Results: On examination of initial radiographic measurements, patients with DM1 showed, in the sagittal plane, larger ANB and smaller SNPg angles. Analysis of the vertical plane showed the mandibular plane angle (ML-NSL) and the intermaxillary angle (ML-NL) to be larger. During the 5-year follow-up period, the intermaxillary angle (ML-NL) remained the same in the group with DM1 whereas this angle decreased in healthy individuals. Limitations: For ethical reasons, historical cephalometric norms were used to compare the growth and the craniofacial morphology of patients with DM1. Conclusions/implications: Young patients with DM1 had already from the beginning a more retrognathic profile and hyperdivergent skeletal aberration with a steep mandibular plane and large intermaxillary angle when compared with healthy individuals. The intermaxillary angle did not decrease during the observation period, contrary to what was observed in healthy individuals.

Speech characteristics in the congenital and childhood-onset forms of myotonic dystrophy type 1.

BACKGROUND: Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3). AIMS: To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound production, nasality and compensatory articulation. A further aim was to analyse whether speech characteristics were correlated to subforms of DM1 and if speech outcome could be related to muscle strength. METHODS & PROCEDURES: Fifty native Swedish speakers (7-29 years old) with the congenital and childhood-onset forms of DM1 and 13 healthy controls participated in the study. The intelligibility of spontaneous speech, speech-sound production - single-word and sentence repetition - including percentage consonants correct (PCC) and compensatory articulation, were evaluated by speech-language pathologists from video recordings. A nasometer and lip-force meter were used for objective evaluations of nasality and orofacial strength. OUTCOMES & RESULTS: In severe (n = 9) and mild congenital DM1 (n = 13), all participants had impaired intelligibility to some degree, while this applied to 79% of those with childhood DM1 (n = 28). PCC for bilabials were 53.9% in severe congenital DM1, 57.4% in mild congenital DM1 and 85.3% in childhood DM1; the corresponding results for dentals were 69.3%, 59.2% and 87.3%. Bilabials were most often compensated for with interdental or labiodental articulation. Dentals were substituted with interdental articulation. Velars were seldom affected. The mean nasalance score was high in the study group compared with controls and with normative data and the majority had weak lips. Maximum lip force, as well as the mean nasalance score, correlated significantly with the intelligibility score. CONCLUSIONS & IMPLICATIONS: The deviant production of bilabial consonants, interdental articulation and hypernasal speech are characteristic features of dysarthria in congenital and childhood DM1. Dysarthria is more frequent and more severe in congenital DM1 compared with childhood DM1. Most individuals with congenital DM1 and childhood-onset DM1 will need speech therapy from a young age. For some children with incomprehensible speech or severe neurodevelopmental disorders, alternative and augmentative ways of communication will be part of the treatment.

Oral hygiene aspects in a study of children and young adults with the congenital and childhood forms of myotonic dystrophy type 1.

The primary aim was to study the interaction between oral hygiene, oral care, saliva production, and oral motor function in individuals with myotonic dystrophy type 1 (DM1). A secondary aim was to study how oral hygiene, oral care, and saliva flow rate are affected by gender, age, and subgroup of DM1 in this study population. The study comprised 52 individuals, seven to 29 years of age, divided into two subgroups of DM1, the congenital (N = 24) and childhood-onset forms (N = 28). A combined dental and oral motor examination was performed and the participants or caregivers answered a questionnaire with questions about general health and disabilities, medication, dental care, and oral health. Sixteen individuals with a plaque-, gingivitis-, or calculus-index score of 5-6 were considered to have poor oral hygiene. There were no significant differences between subgroups (age, gender, or form of DM1) in terms of the occurrence of calculus, gingivitis, plaque, or saliva flow rate. The mean value of the unstimulated whole saliva flow rate was 0.7(±0.44) mL/min. An open mouth at rest and oral motor dysfunction were frequent findings. The majority of Swedish children and young adults with the congenital or childhood form of DM1 have fair or poor oral hygiene, with a high occurrence of plaque and gingivitis. As a group, individuals with DM1 and poor oral hygiene have a higher frequency of caries and they report less satisfaction with their oral care at home and the quality of dental care received compared with those with good oral hygiene.

Oral health and oromotor function in rare diseases--a database study.

The aim was to study oral health and oromotor function in individuals with rare diseases. A disease is defined as rare when it affects no more than 100 individuals per million population and leads to a marked degree of disability. An affected nervous or musculoskeletal system, cognitive impairment, neuropsychiatric disorders and craniofacial malformations are common in rare diseases and may all be risk factors for oral health and oromotor function. In 1996-2008, 1,703 individuals with 169 rare diseases, aged 3-67 years, answered a questionnaire about general health, oral health and orofacial function and 1,614 participated in a clinical examination. A control group of 135 healthy children, aged 3-14 years, was also included in the study. Oral health was examined by a dentist and oromotor function by a speech-language pathologist. The participants with rare diseases were recruited via family programmes, referrals to the clinic and research projects, while the controls were randomly selected from a Swedish municipality. In the diagnosis group, 40% had moderate or severe problems coping with dental treatment, 43% were receiving specialised dental care. Difficulties related to tooth brushing were common compared with the controls. Approximately two thirds of the study group and the control group were caries free. Frontal open bite, long face and high palate were common in individuals with rare diseases compared with controls. Oromotor impairment was a frequent finding (43%) and was absent among the controls. There was a significant correlation between oromotor impairment and certain structural deviations and oral-health issues. Compared with healthy controls, individuals with rare diseases often have difficulty coping with dental treatment and managing tooth brushing. Dysmorphology and oromotor dysfunction are frequent findings in this population and they often require extra prophylactic dental care and access to specialised dental care in order to prevent oral disease.

Speech production, intelligibility and oromotor function in seven individuals with Möbius sequence.

PURPOSE: Möbius sequence is a rare disease characterized by congenital facial and abducent nerve palsy. Other cranial nerves may be affected. Cleft palate, intellectual disability and neuropsychiatric disorders are associated with the diagnosis. The aim was to explore speech production, intelligibility and oromotor function in a group of individuals with Möbius sequence. METHOD: Three children (5-11 years) and four adults (26-54 years) were recruited to the study via the Swedish Möbius syndrome association. In addition to cranial nerve dysfunction, two had a hearing impairment, one Asperger syndrome and one a cleft palate. Perceptual assessments included an evaluation of intelligibility in single words and spontaneous speech, the percentage of phonemes correct (PPC) and screening of orofacial functions (NOT-S). Objective measurements were used for the evaluation of nasality, lip force and tongue force. RESULT: Three individuals had severely impaired intelligibility, two slightly impaired and two had fully intelligible speech. The PPC varied between 59.3-100%. Five individuals had bilateral facial palsy, two unilateral facial palsy and six tongue impairment. One had a slightly increased nasalance score. Compensatory strategies were being effectively used. CONCLUSION: This case series contributes more in-depth knowledge of speech production, intelligibility and oromotor function in this rare condition.

Profiles of orofacial dysfunction in different diagnostic groups using the Nordic Orofacial Test (NOT-S)--a review.

OBJECTIVE: The Nordic Orofacial Test-Screening (NOT-S) was developed as a comprehensive method to assess orofacial function. Results from the screening protocol have been presented in 11 international publications to date. This study reviewed these publications in order to compile NOT-S screening data and create profiles of orofacial dysfunction that characterize various age groups and disorders. MATERIALS AND METHODS: NOT-S results of nine reports meeting the inclusion criteria were reviewed. Seven of these studies not only provided data on the mean and range of total NOT-S scores, but also on the most common domains of orofacial dysfunction (highest rate of individuals with dysfunction scores), allowing the construction of orofacial dysfunction profiles based on the prevalence of dysfunction in each domain of NOT-S. RESULTS: The compiled data comprised 669 individuals, which included healthy control subjects (n = 333) and various patient groups (n = 336). All studies reported differences between individuals with diagnosed disorders and healthy control subjects. The NOT-S data could measure treatment effects and provided dysfunction profiles characterizing the patterns of orofacial dysfunction in various diagnoses. CONCLUSIONS: This review corroborates previous results that the NOT-S differentiates well between patients and healthy controls and can also show changes in individuals after treatment. NOT-S could be used as a standard instrument to assess orofacial dysfunction, evaluate the outcomes of oral habilitation and rehabilitation and improve comparability in clinical practice and research.

Orofacial functions and oral health associated with Treacher Collins syndrome.

OBJECTIVE: The aim of this study was to describe orofacial features and functions and oral health associated with Treacher Collins syndrome (TCS) in relation to the variable phenotypic expression of the condition. MATERIALS AND METHODS: The Nordic Orofacial Test-Screening (NOT-S), MHC Questionnaire, MHC Observation chart and clinical examinations of nasal and pharyngeal conditions and chewing and swallowing function were used to assess 19 individuals aged 5-74 years (median 34 years). TCS severity scores were calculated by a clinical geneticist. RESULTS: Orofacial features characterizing the study group were altered profile, increased mandibular angle, narrow hypopharynx and facial asymmetry. Basic orofacial functions such as breathing, eating, facial expression and speech were affected in all subjects demonstrating orofacial dysfunction in at least two NOT-S domains (median NOT-S total score 4/12, range 2-7). Significant correlation was found between the TCS severity scores reflecting phenotypic expression and the NOT-S total scores reflecting orofacial function. Self-reported experience of dry oral mucosa was common. Overall, dental health was good with few carious lesions diagnosed, but considerable need for orthodontic treatment was documented. CONCLUSIONS: Altered orofacial features and functions in TCS are common and often persist into late adolescence and adulthood. The functional level was correlated with the phenotypic variability of the condition. The standard of oral health was satisfactory. The findings indicated that individuals with TCS are likely to require lifelong health services related to their oral condition.

The effect of lip strengthening exercises in children and adolescents with myotonic dystrophy type 1.

OBJECTIVE: Myotonic dystrophy type 1 (DM1) is a slowly progressive neuromuscular disease. Most children and adolescents with DM1 have weak lips and impaired lip function. The primary aim of the present study was to investigate if regular training with an oral screen could strengthen the lip muscles in children and adolescents with DM1. If lip strength improved, a secondary aim would be to see if this could have an immediate effect on lip functions such as lip mobility, eating and drinking ability, saliva control, and lip articulation. METHODS: Eight school aged children and adolescents (7-19 years) with DM1 were enrolled in an intervention study with a single group counterbalanced design. After three baseline measurements four children (Subgroup A) were randomly chosen to start 16 weeks therapy while the others (Subgroup B) acted as controls without therapy. After 16 weeks the subgroups changed roles. During treatment the participants exercised lip strength with an oral screen for 16 min, 5 days/week. Lip force, grip force (control variable), and lip articulation were followed-up every fourth week. At baseline, after treatment, and after maintenance, the assessment protocol was completed with measurements of lip mobility using 3D motion analysis and parental reports concerning eating ability and saliva control. RESULTS: Seven of eight participants improved maximal lip strength and endurance but only four showed significant change. Increased lip strength did not automatically lead to improved function. There was a wide intra-individual variation concerning speech and eating ability within and between assessments. The treatment programme could be carried out without major problems but the frequency and the effect of training were affected by recurrent infections in some. CONCLUSIONS: Maximal lip force and lip force endurance can improve in school aged children and adolescents with DM1. Improved lip strength alone cannot be expected to have an effect on lip articulation, saliva control, or eating and drinking ability in this population. Lip strengthening exercises can be a complement but not a replacement for speech therapy and dysphagia treatment. A prefabricated oral screen is an easy to use tool suitable for strengthening lip exercises.

Oral health status in a group of children and adolescents with myotonic dystrophy type 1 over a 4-year period.

AIM: The aim of this longitudinal study was to evaluate changes in oral health, orofacial function, and dental care in children with myotonic dystrophy type 1 (DM1) in comparison with a control group. METHODS: Thirty-six DM1 patients and 33 control patients out of originally 37 in each group were examined on two occasions about 4 years apart. Caries, plaque, and gingivitis were registered, mouth opening capacity assessed and the ability to cooperate in dental treatment estimated. Questionnaires concerning different aspects of oral health and care, symptoms of temporomandibular dysfunction (TMD), and dental trauma were also used. RESULTS: The DM1-patients, in particular the boys, had significantly more caries, plaque, and gingivitis than the control patients on both occasions and the increase in decayed missing or filled permanent teeth (DMFT) and surfaces (DMFS) was significantly larger. They received more dental care and had lower cooperation ability. Mouth opening capacity and increase of it was significantly lower and symptoms of TMD were significantly more frequent. CONCLUSIONS: DM1 patients, as they grow older, have increasing amounts of plaque and risk of caries and gingivitis. They have more TMD problems. Behaviour management problems do not seem to decrease with age. Increased prophylactic care is essential for DM1 patients.

Development and evaluation of a comprehensive screening for orofacial dysfunction.

The aim was to develop a comprehensive screening instrument for evaluation of orofacial dysfunction that was easy to perform for different health professionals without special equipment. The Nordic Orofacial Test--Screening (NOT-S), consisting of a structured interview and clinical examination,was developed with a picture manual illustrating the different tasks in the examination. It was first tested in a Swedish version, and later translated to other Nordic languages, and to English. The interview reflected six domains, (I) Sensory function, (II) Breathing, (III) Habits, (IV) Chewing and swallowing, (V) Drooling, and (VI) Dryness of the mouth, and the examination included six domains representing (1) The face at rest, and tasks regarding (2) Nose breathing, (3) Facial expression, (4) Masticatory muscle and jaw function, (5) Oral motor function, and (6) Speech. One or more "yes" for impairment in a domain resulted in one point (maximum NOT-S score 12 points). The mean NOT-S score (+/- SD) in 120 patients (3-86 yr), referred to five centers for specialized dental care or speech and language pathology in Sweden, Norway and Denmark, was 4.1 +/- 2.6, and 0.4 +/- 0.6 in 60 control subjects (3-78 yr). The screening was easy to administer and the time spent 5-13 min. The scores from the clinic-referred sample differed significantly from the controls, and the sensitivity of the screening was 0.96 and specificity 0.63. Repeated evaluations of videotapes of 200 patients by 3 examiners, speech-language pathologists and dentists, with at least two-week intervals, showed inter- and intraexaminer agreement on the points given in the domains at respectively 83% and 92-95% which increased after recalibration to 85% and 95-99%. Kappa values for interexaminer agreement on the NOT-S scores were 0.42-0.44 (i.e. fair), and the method error was 5.3%. To conclude, NOT-S gave a reliable and valid screening for orofacial dysfunction.