| 1. |
- Engvall, Monica, 1940, et al.
(författare)
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Oral health in children and adolescents with myotonic dystrophy.
- 2007
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Ingår i: European journal of oral sciences. - : Wiley. - 0909-8836 .- 1600-0722. ; 115:3, s. 192-7
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Tidskriftsartikel (refereegranskat)abstract
- Myotonic dystrophy or dystrophia myotonica (DM) is a hereditary neuromuscular multisystem disease with a varying clinical expressivity and severity. The objective of this study was to assess the oral health in children with myotonic dystrophy and to compare it with a control group. Fifty-six DM patients, aged 2.7-18.0 yr, were compared with age- and gender-matched control patients with respect to caries, plaque, and gingivitis. Oral function and signs of temporomandibular dysfunction (TMD) were assessed, and the ability to co-operate in dental treatment was estimated. Questionnaires concerning eating habits, dental care, traumatic injuries to teeth, and orofacial function were also used. The DM patients had significantly more caries, plaque, and gingivitis than did control patients. They had more TMD problems and lower co-operation ability than the healthy control persons. General sedation was frequently needed to carry through dental treatment. DM patients are at risk of caries, gingivitis and TMD problems, and need intensified prophylactic care. Behavior management problems are common.
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| 2. |
- Engvall, Monica, 1940, et al.
(författare)
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Oral health status in a group of children and adolescents with myotonic dystrophy type 1 over a 4-year period.
- 2009
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Ingår i: International journal of paediatric dentistry / the British Paedodontic Society [and] the International Association of Dentistry for Children. - 1365-263X. ; 19:6, s. 412-22
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 3. |
- Backman, Ellen, MSc, 1981-, et al.
(författare)
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Gastrostomy tube insertion in children with developmental or acquired disorders : a register-based study
- 2020
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Ingår i: Developmental Medicine & Child Neurology. - Chichester : Wiley-Blackwell. - 0012-1622 .- 1469-8749. ; 62:10, s. 1191-1197
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Tidskriftsartikel (refereegranskat)abstract
- 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. © 2020 The Authors. DevelopmentalMedicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press
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| 4. |
- Bakke, Merete, et al.
(författare)
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Development and evaluation of a comprehensive screening for orofacial dysfunction.
- 2007
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Ingår i: Swedish dental journal. - 0347-9994. ; 31:2, s. 75-84
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 5. |
- Havner, Christina, et al.
(författare)
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Open Bite Malocclusion and Orofacial Dysfunction in Patients with Myotonic Dystrophy Type 1 and Duchenne Muscular Dystrophy
- 2023
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Ingår i: JOURNAL OF NEUROMUSCULAR DISEASES. - 2214-3599 .- 2214-3602. ; 10:5, s. 869-880
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Tidskriftsartikel (refereegranskat)abstract
- 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 (AOB(Tot)). 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.
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| 6. |
- Mogren, Å, et al.
(författare)
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Orofacial function in children with Speech Sound Disorders (SSD) persisting after the age of six years
- 2020
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Ingår i: International Journal of Speech-Language Pathology. - : Informa UK Limited. - 1754-9515 .- 1754-9507. ; 22:5, s. 526-536
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Tidskriftsartikel (refereegranskat)abstract
- 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. © 2020, © 2020 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.
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| 7. |
- Moverare, T., et al.
(författare)
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Peripheral facial palsy: Speech, communication and oral motor function
- 2017
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Ingår i: European Annals of Otorhinolaryngology-Head and Neck Diseases. - : Elsevier BV. - 1879-7296 .- 1879-730X. ; 134:1, s. 27-31
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: The aim of the present study was to examine the effect of acquired unilateral peripheral facial palsy on speech, communication and oral functions and to study the relationship between the degree of facial palsy and articulation, saliva control, eating ability and lip force. Materials and methods: In this descriptive study, 27 patients (15 men and 12 women, mean age 48 years) with unilateral peripheral facial palsy were included if they were graded under 70 on the Sunnybrook Facial Grading System. The assessment was carried out in connection with customary visits to the ENT Clinic and comprised lip force, articulation and intelligibility, together with perceived ability to communicate and ability to eat and control saliva conducted through self-response questionnaires. Results: The patients with unilateral facial palsy had significantly lower lip force, poorer articulation and ability to eat and control saliva compared with reference data in healthy populations. The degree of facial palsy correlated significantly with lip force but not with articulation, intelligibility, perceived communication ability or reported ability to eat and control saliva. Conclusion: Acquired peripheral facial palsy may affect communication and the ability to eat and control saliva. Physicians should be aware that there is no direct correlation between the degree of facial palsy and the possible effect on communication, eating ability and saliva control. Physicians are therefore recommended to ask specific questions relating to problems with these functions during customary medical visits and offer possible intervention by a speech-language pathologist or a physiotherapist. (C) 2016 Elsevier Masson SAS. All rights reserved.
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| 8. |
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| 9. |
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| 10. |
- Sjögreen, Lotta, 1954, et al.
(författare)
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Development of speech, feeding, eating, and facial expression in Möbius sequence.
- 2001
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Ingår i: International journal of pediatric otorhinolaryngology. - 0165-5876. ; 60:3, s. 197-204
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 11. |
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| 12. |
- Sjögreen, Lotta, 1954, et al.
(författare)
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Facial palsy in individuals with thalidomide embryopathy: frequency and characteristics
- 2012
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Ingår i: Journal of Laryngology and Otology. - : Cambridge University Press (CUP). - 0022-2151. ; 126:9, s. 902-906
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Tidskriftsartikel (refereegranskat)abstract
- 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 lcnowledge of thalidomide embryopathy by adding a description of how facial expression can be affected in this condition.
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| 13. |
- Sjögreen, Lotta, 1954, et al.
(författare)
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Oralmotorisk utveckling och joller
- 2008
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Ingår i: Logopediboken. Hartelius L, Netterbladt U, redaktörer. - Lund : Studentlitteratur. - 9789144038865 ; , s. 95-103
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 14. |
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| 15. |
- Sjögreen, Lotta, 1954, et al.
(författare)
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Orofacial dysfunction in children and adolescents with myotonic dystrophy.
- 2007
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Ingår i: Developmental medicine and child neurology. - 0012-1622. ; 49:1, s. 18-22
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 16. |
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| 17. |
- Sjögreen, Lotta, 1954
(författare)
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Orofacial dysfunctions in children and adolescents with myotonic dystrophy type 1 - evaluation and intervention
- 2010
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Myotonic dystrophy type 1 (DM1) is a slowly progressive neuromuscular disease. The overall aim of this thesis was primarily to describe the characteristics, prevalence, and development of orofacial functions in a group of children and adolescents with DM1 and secondly to investigate the effect of lip strengthening exercises. In total, the study population consisted of 66 individuals with DM1, five with Möbius syndrome, six with facioscapulohumeral muscular dystrophy and 106 healthy controls. Fifty-six of the patients (30 males, 26 females; median age 13 years [2–21 years]) with DM1 and 56 of the healthy age and gender matched controls were enrolled in Study I. Thirty-five patients and 31 controls were assessed twice with approximately 3–4-year intervals (Study II). Facial expression, intelligibility, oral motor performance, and lip force, were assessed by a speech-language pathologist and the families answered questions about eating and saliva control in a questionnaire. Eight individuals (7–17 years) from the same study group participated in an intervention study (Study IV). After baseline measurements, four participants began 16 weeks of treatment while the others acted as controls. Thereafter, those who had started as controls began treatment and the other had no training. Lip exercises were carried out five days a week. Follow-ups were conducted every fourth week. Assessments were performed with both quantitative and qualitative methods. These methods were developed and validated in a previous methodology study. Lip mobility was measured with 3D video analysis and lip strength with a lip force meter. Fifty healthy adults and 23 adults with diagnoses affecting the facial muscles participated in the methodology study (Study III). All patients with DM1 had impaired facial expression. Intelligibility was considerably reduced in 30 patients (60 %), excluding 6 patients without speech. The majority had moderate or severe impairment of lip motility (76 %), tongue motility (52 %), and lip force (69 %). Deviant production of bilabial and dental consonants was common. Families reported problems with drooling (37 %) and eating (52 %). Oral motor dysfunction was most prominent in congenital DM1, and males were more affected than females. Intelligibility, eating and drinking ability, and saliva control improved during childhood in some patients. Facial expression deteriorated significantly, especially in patients with childhood DM1, but the progressive weakening of the orofacial muscles also manifested as reduced intelligibility and increased drooling. The measuring instruments were found to be reliable as well as clinically relevant and could therefore be used for evaluation of treatment as a complement to qualitative assessments. Seven of eight participants in the intervention study improved lip strength but not lip function. Orofacial dysfunctions such as impaired facial expression, speech, eating and drooling are common in children and adolescents with DM1. Both improved and deteriorated orofacial functions could be seen in this group of patients at follow-up. The progression of muscle weakness in DM1 is clearly expressed in the deterioration of facial expression. Children and adolescents with DM1 can improve lip strength. However, improved lip strength will not automatically lead to improved lip function.
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| 18. |
- Sjögreen, Lotta, 1954, et al.
(författare)
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Speech production, intelligibility and oromotor function in seven individuals with Möbius sequence
- 2015
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Ingår i: International Journal of Speech-Language Pathology. - : Informa UK Limited. - 1754-9507 .- 1754-9515. ; 17:6, s. 537-544
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 19. |
- Sjögreen, Lotta, 1954, et al.
(författare)
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Sväljningsstörningar - allmän del : Dysphagia
- 2007
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Ingår i: Logopediboken. Hartelius L, Netterbladt U, redaktörer. - Lund : Studentlitteratur. - 9789144038865 ; , s. 473-8
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 20. |
- Sjögreen, Lotta, 1954, et al.
(författare)
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The effect of lip strengthening exercises in children and adolescents with myotonic dystrophy type 1.
- 2010
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Ingår i: International journal of pediatric otorhinolaryngology. - : Elsevier BV. - 1872-8464 .- 0165-5876. ; 74:10, s. 1126-34
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 21. |
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| 22. |
- Strömland, Kerstin, 1934, et al.
(författare)
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CHARGE association in Sweden: malformations and functional deficits.
- 2005
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Ingår i: American journal of medical genetics. Part A. - : Wiley. - 1552-4825. ; 133:3, s. 331-9
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 23. |
- Strömland, Kerstin, 1934, et al.
(författare)
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Mobius sequence--a Swedish multidiscipline study.
- 2002
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Ingår i: European Journal of Pediatric Neurology. - : Elsevier BV. - 1090-3798. ; 6:1, s. 35-45
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Tidskriftsartikel (refereegranskat)abstract
- Möbius sequence/syndrome is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The aims were to determine the frequency of associated clinical characteristics and to identify any pregnancy or environmental factors in patients with Möbius sequence. A prospective study of 25 Swedes with apparent involvement of the 6th and 7th cranial nerves was performed and 25 patients, 1 month to 55 years old, were examined. Obvious associated systemic anomalies observed included: limb malformations (10), Poland anomaly (2), hypodontia (7), microglossia (6), cleft palate (4), hearing impairment (5) and external ear malformation (1). Pronounced functional abnormalities were observed involving facial expression (16), speech (13), eating and swallowing (12) and difficulty in sucking in infancy (11). Six patients had an autistic syndrome, one an autistic-like condition, and mental retardation was found in all these patients. No common aetiological cause was found but their mothers' pregnancy histories revealed a history of benzodiazepines (1), bleeding during pregnancy (8), spontaneous abortion (7) and chorion villus sampling in the second month of pregnancy (1). In conclusion, many patients had multiple problems with eating and communication resulting from facial palsy, cleft palate and tongue anomalies. Autism and mental retardation was diagnosed in one-third of the patients. Awareness of the wide spectrum of manifestations in Möbius sequence will assist in identification of the associated malformations and functional problems that are often seen and result in better care of the children.
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| 24. |
- Strömland, Kerstin, 1934, et al.
(författare)
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Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.
- 2007
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:12, s. 1317-1325
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 25. |
- Åsten, Pamela, et al.
(författare)
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Orofacial functions and oral health associated with Treacher Collins syndrome.
- 2013
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Ingår i: Acta odontologica Scandinavica. - : Informa UK Limited. - 1502-3850 .- 0001-6357. ; 71:3-4, s. 616-25
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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