Lotta Sjögreen

Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.

Swedish patients with the oculo‐auriculo‐vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.

Orofacial dysfunction in children and adolescents with myotonic dystrophy

Myotonic dystrophy (DM) is a neuromuscular disorder caused by an expansion of a CTG repeat sequence on chromosome 19q13. The aim of the present study was to describe the characteristics and prevalence of oral motor dysfunction in a cohort of children and adolescents with DM and to correlate different aspects of oral motor function with the type of DM and sex. Fifty‐six individuals with DM (30 males, 26 females; median age 13y 2mo; range 2y 6mo‐21y 5mo) were compared with healthy controls. They were divided into four subgroups: severe congenital DM (n=18); mild congenital DM (n=18); childhood DM (n=18); and classical DM (n=2). A speech‐language pathologist assessed different variables of oral motor function, intelligibility, and lip force. The families used a questionnaire to report on eating difficulties and drooling. All individuals with DM had impaired facial expression. Intelligibility was moderately or severely reduced in 30 patients (60%), excluding six patients without speech. Most had a moderate or severe impairment of lip motility (76.0%), tongue motility (52.2%), and lip force (69.2%), causing deviant production of bilabial and dental consonants. The families reported problems with eating (51.9%) and drooling (37.0%). Oral motor dysfunction was most prominent in congenital DM, and males were more affected than females.

Development of speech, feeding, eating, and facial expression in Möbius sequence.

OBJECTIVE Möbius sequence is a rare congenital disorder with the primary diagnostic criteria of congenital facial and abducens nerve palsy. Involvement from other cranial nerves is common. Orofacial anomalies and limb malformations may be associated with the disorder. Mental retardation and autism have been reported in some. The aim of this study was to describe orofacial dysfunction observed in a prospective, multidisciplinary study of individuals with Möbius sequence. METHODS Twenty-five patients with Möbius sequence, aged 2 months to 54 years, participated in the study. Clinical observations by different medical specialists were collected in an established database. Dentists and a speech pathologist made the orofacial examination. The parents or the patient described orofacial function and dysfunction through interviews and a questionnaire. RESULTS Bilateral facial palsy was observed in 16 patients, unilateral palsy in 9. Observed orofacial anomalies were tongue dysfunction (16), micrognatia (8), microglossia (7), cleft palate (4), and cleft lip (1). Seventeen had speech problems, 16 reported feeding difficulties in infancy, 14 eating problems, and 8 drooling. CONCLUSIONS Orofacial problems are common in Möbius sequence and have a significant impact on the quality of life for the patient and for the whole family. Early intervention by a speech pathologist and a paediatric dentist should be undertaken to improve orofacial function and symptoms. Plastic surgery, oral motor training, facial massage, speech therapy, and orthodontic treatment are some of the therapy methods that can be considered.

CHARGE association in Sweden: Malformations and functional deficits

CHARGE association (CA) consists of a non‐random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro‐psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty‐one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA.

Exploring quantitative methods for evaluation of lip function

The objective was to explore quantitative methods for the measurement of lip mobility and lip force and to relate these to qualitative assessments of lip function. Fifty healthy adults (mean age 45 years) and 23 adults with diagnoses affecting the facial muscles (mean age 37 years) participated in the study. Diagnoses were Möbius syndrome (n=5), Facioscapulohumeral muscular dystrophy (n=6) and Myotonic dystrophy type 1 (n=12). A system for computerised 3D analysis of lip mobility and a lip force meter were tested, and the results were related to results from qualitative assessments of lip mobility, speech (articulation), eating ability and saliva control. Facial expressions studied were open mouth smile and lip pucker. Normative data and cut-off values for adults on lip mobility and lip force were proposed, and the diagnostic value of these thresholds was tested. The proposed cut-off values could identify all inviduals with moderate or severe impairment of lip mobility but not always the milder cases. There were significant correlations between the results from quantitative measurements and qualitative assessments. The examined instruments for measuring lip function were found to be reliable with an acceptable measuring error. The combination of quantitative and qualitative ways to evaluate lip function made it possible to show the strong relation between lip contraction, lip force, eating ability and saliva control. The same combination of assessments can be used in the future to study if oral motor exercises aimed at improving lip mobility and strength could have a positive effect on lip function.

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.

Orofacial functions and oral health associated with Treacher Collins syndrome

Abstract 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.

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

Abstract 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.

Facial palsy in individuals with thalidomide embryopathy: frequency and characteristics.

BACKGROUND Earlier studies have shown that individuals with thalidomide embryopathy can have skeletal deformities, ear and eye aberrations, and facial palsy. This study aimed to survey the frequency and characteristics of facial palsy in this group of individuals. PARTICIPANTS Thirty-one individuals with thalidomide embryopathy (age range, 45-47 years) and 25 healthy adults (age range, 41-56 years; mean age ± standard deviation, 49 ± 4.2 years). MAIN OUTCOME MEASURES Voluntary facial movements, lip force and three-dimensional lip motion analysis. RESULTS AND CONCLUSION Four of the thalidomide embryopathy individuals (13 per cent) had congenital facial palsy. All four had eye aberrations, three had ear anomalies and one had a limb anomaly. Individuals with thalidomide embryopathy without a clinical diagnosis of facial impairment had significantly weaker lips and more restricted lip mobility than healthy controls. This study contributes to the overall knowledge of thalidomide embryopathy by adding a description of how facial expression can be affected in this condition.

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.