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  • 1.
    Arzoo, Pakeeza Shaiq
    et al.
    Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
    Klar, Joakim
    Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
    Bergendal, Birgitta
    National Oral Disability Centre, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Norderyd, Johanna
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD.
    Dahl, Niklas
    Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
    WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations2014Ingår i: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 164, nr 2, s. 353-359Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    A large proportion (>50%) of patients with isolated oligodontia were recently reported with WNT10A mutations. We have analyzed a population-based cohort of 102 individuals diagnosed with non-syndromic oligodontia and a mean of 8.2 missing teeth. The cohort included 94 families and screening of WNT10A identified that 26 probands (27.7%) had at least one WNT10A variant. When we included the MSX1, PAX9, AXIN2, EDA, EDAR, and EDARADD genes, 38.3% of probands were positive for a mutation. Biallelic WNT10A mutations were strongly associated with a larger number of missing teeth (11.09) when compared to both monoallelic WNT10 mutations (6.82) and the group without mutations in WNT10A, MSX1, PAX9, AXIN2, EDA, EDAR, or EDARADD (7.77). Genotype–phenotype analysis of individuals with WNT10A mutations showed that premolars were the most common missing teeth. Furthermore, biallelic WNT10A mutations were associated with absence of maxillary and mandibular molars as well as mandibular central incisors. Maxillary central incisors were always present. Thus, our study indicates that WNT10A mutations are associated with both the type and numbers of missing teeth. Furthermore, we show that this population-based cohort of isolated oligodontia had a considerably lower frequency of mutated WNT10A alleles and a lower mean number of missing teeth when compared to patients recruited from dental specialist centers.

  • 2.
    Bergendal, Birgitta
    et al.
    Odontologiska Institutionen i Jönköping.
    Klar, Joakim
    Uppsala University.
    Stecksén-Blicks, Christina
    Umeå University.
    Norderyd, Johanna
    Odontologiska Institutionen i Jönköping.
    Dahl, Niklas
    Uppsala University.
    Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes2011Ingår i: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 155, nr 7, s. 1616-1622Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Oligodontia is defined as the congenital lack of six or more permanent teeth, excluding third molars. Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. Here we define the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes, and the novel candidate gene EDARADD in a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia. Mutation screening was performed using denaturing gradient gel electrophoresis and DNA sequence analysis. Analyses of the coding sequences of the six genes showed sequence alterations predicted to be damaging or potentially damaging in ten of 93 probands (10.8%). Mutations were identified in the EDARADD (n = 1), AXIN2 (n = 3), MSX1 (n = 2), and PAX9 (n = 4) genes, respectively. None of the 10 probands with mutations had other self-reported symptoms from ectodermal tissues. The oral parameters were similar when comparing individuals with and without mutations but a family history of oligodontia was three times more frequent for probands with mutations. EDARADD mutations have previously been reported in a few families segregating hypohidrotic ectodermal dysplasia and this is, to our knowledge, the first report of an EDARADD mutation associated with isolated oligodontia.

  • 3.
    Bergendal, Birgitta
    et al.
    Odontologiska Institutionen i Jönköping.
    Norderyd, Johanna
    Odontologiska Institutionen i Jönköping.
    Bågesund, Mats
    Center for Orthodontics and Paediatric Dentistry, Linköping, Sweden.
    Holst, Annalena
    Department of Paediatric Dentistry, Kalmar, Sweden.
    Signs and symptoms from ectodermal organs in young Swedish individuals with oligodontia2006Ingår i: International Journal of Paediatric Dentistry, ISSN 0960-7439, E-ISSN 1365-263X, Vol. 16, nr 5, s. 320-326Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Objectives. The aim was to assess signs and symptoms from other ectodermal organs in addition to teeth in young individuals with oligodontia and to establish the prevalence of oligodontia.

    Sample and methods.  Children born 1981–94 reported by dental teams in the Public Dental Service to have oligodontia were asked to participate in a clinical study. The examinations comprised a structured interview on symptoms from ectodermal organs, and testing of salivary secretion.

    Results.  One hundred and sixty-two individuals met the inclusion criteria, and 123 individuals (75·9%) participated in the clinical study. Half of the individuals had one to four signs or symptoms from ectodermal organs beside oligodontia. The most common sign was low salivary secretion. Twelve individuals (9·6%) with isolated oligodontia reported impaired function of the sweat glands, hair, or nails. The prevalence of oligodontia was 0·090%.

    Conclusions.  An early identification of individuals with oligodontia can be made in a majority of cases by checking that all permanent incisors have erupted at the age of 8 years. The validity in asking individuals about normal and abnormal function of ectodermal organs was found to be low. This indicates that there is a strong need to establish routine clinical criteria for dysplasia of ectodermal organs.

  • 4.
    Bergendal, Birgitta
    et al.
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Norderyd, Johanna
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Zhou, Xiaolei
    Uppsala University, Department of Immunology, Genetics and Pathology, Uppsala, Sweden.
    Klar, Joakim
    Uppsala University, Department of Immunology, Genetics and Pathology, Uppsala, Sweden.
    Dahl, Niklas
    Uppsala University, Department of Immunology, Genetics and Pathology, Uppsala, Sweden.
    Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency2016Ingår i: BMC Medical Genetics, ISSN 1471-2350, E-ISSN 1471-2350, Vol. 17, nr 1, artikel-id 88Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    BACKGROUND: The WNT10A protein is critical for the development of ectodermal appendages. Variants in the WNT10A gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis.

    METHODS: In seven patients with severe tooth agenesis we identified anomalies in primary dentition and additional ectodermal symptoms, and assessed WNT10A mutations by genetic analysis.

    RESULTS: Investigation of primary dentition revealed peg-shaped crowns of primary mandibular incisors and three individuals had agenesis of at least two primary teeth. The permanent dentition was severely affected in all individuals with a mean of 21 missing teeth. Primary teeth were most often present in positions were succedaneous teeth were missing. Furthermore, most existing molars had taurodontism. Light, brittle or coarse hair was reported in all seven individuals, hyperhidrosis of palms and soles in six individuals and nail anomalies in two individuals. The anomalies in primary dentition preceded most of the additional ectodermal symptoms. Genetic analysis revealed that all seven individuals were homozygous or compound heterozygous for WNT10A mutations resulting in C107X, E222X and F228I.

    CONCLUSIONS: We conclude that tooth agenesis and/or peg-shaped crowns of primary mandibular incisors, severe oligodontia of permanent dentition as well as ectodermal symptoms of varying severity may be predictors of bi-allelic WNT10A mutations of importance for diagnosis, counselling and follow-up.

  • 5.
    Faulks, Denise
    et al.
    Clermont Université, Université d’Auvergne, EA3847, Centre de Recherche en Odontologie Clinique, Clermont-Ferrand, France.
    Norderyd, Johanna
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. National Oral Disability Centre, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Molina, Gustavo
    Facultad de Odontología, Universidad Nacional de Córdoba, Córdoba, Argentina.
    Macgiolla Phadraig, Caoimhin
    Dublin Dental University Hospital, Trinity College, Dublin, Ireland.
    Scagnet, Gabriela
    Quinquela Martin Hospital, Government of Buenos Aires City & National University of Buenos Aires, Buenos Aires, Argentina.
    Eschevins, Caroline
    Clermont Université, Université d’Auvergne, EA3847, Centre de Recherche en Odontologie Clinique, Clermont-Ferrand, France.
    Hennequin, Martine
    Clermont Université, Université d’Auvergne, EA3847, Centre de Recherche en Odontologie Clinique, Clermont-Ferrand, France.
    Using the International Classification of Functioning, Disability and Health (ICF) to describe children referred to special care or paediatric dental services2013Ingår i: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 8, nr 4, artikel-id e61993Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Children in dentistry are traditionally described in terms of medical diagnosis and prevalence of oral disease. This approach gives little information regarding a child's capacity to maintain oral health or regarding the social determinants of oral health. The biopsychosocial approach, embodied in the International Classification of Functioning, Disability and Health - Child and Youth version (ICF-CY) (WHO), provides a wider picture of a child's real-life experience, but practical tools for the application of this model are lacking. This article describes the preliminary empirical study necessary for development of such a tool - an ICF-CY Core Set for Oral Health. An ICF-CY questionnaire was used to identify the medical, functional, social and environmental context of 218 children and adolescents referred to special care or paediatric dental services in France, Sweden, Argentina and Ireland (mean age 8 years ± 3.6 yrs). International Classification of Disease (ICD-10) diagnoses included disorders of the nervous system (26.1%), Down syndrome (22.0%), mental retardation (17.0%), autistic disorders (16.1%), and dental anxiety alone (11.0%). The most frequently impaired items in the ICF Body functions domain were 'Intellectual functions', 'High-level cognitive functions', and 'Attention functions'. In the Activities and Participation domain, participation restriction was frequently reported for 25 items including 'Handling stress', 'Caring for body parts', 'Looking after one's health' and 'Speaking'. In the Environment domain, facilitating items included 'Support of friends', 'Attitude of friends' and 'Support of immediate family'. One item was reported as an environmental barrier - 'Societal attitudes'. The ICF-CY can be used to highlight common profiles of functioning, activities, participation and environment shared by children in relation to oral health, despite widely differing medical, social and geographical contexts. The results of this empirical study might be used to develop an ICF-CY Core Set for Oral Health - a holistic but practical tool for clinical and epidemiological use.

  • 6. Flygare, L
    et al.
    Norderyd, J
    Kubista, J
    Ohlsson, J
    Vallo-Christiansen, J
    Magnusson, B
    Chronic recurrent multifocal osteomyelitis involving both jaws: report of a case including magnetic resonance correlation1997Ingår i: Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics, ISSN 1079-2104, E-ISSN 1528-395X, Vol. 83, nr 2Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    A case of chronic recurrent multifocal osteomyelitis in a 14-year-old girl is presented. The disease had an initial aggressive osteolytic appearance involving both the maxilla and the mandible. Conservative treatment with minimal surgical intervention has been successful in this case during a 2-year follow-up period. The value of magnetic resonance imaging and bone scintigraphy in this case and the cause of chronic recurrent multifocal osteomyelitis is discussed.

  • 7. Hausmann, E
    et al.
    Allen, K
    Norderyd, J
    Ren, W
    Shibly, O
    Machtei, E
    Studies on the relationship between changes in radiographic bone height and probing attachment1994Ingår i: Journal of Clinical Periodontology, ISSN 0303-6979, E-ISSN 1600-051X, Vol. 21, nr 2Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    The aim of this investigation was to determine the relationship between loss of radiographic crestal bone height and probing attachment loss. As part of this aim, we are introducing a new method for determination of a threshold for significant probing attachment loss which takes into account the error contributed by alteration in tissue tone. 57 adults with established periodontitis were selected. Radiographs were taken using the Rinn alignment system. Crestal change was determined from bone height measurements on digitized images of pairs of radiographs using the "side-by-side" technique of analysis developed recently by us. Probing attachment loss was measured using the Florida electronic probe system. Radiographic and probing measurements were made at baseline and after 1 year. No treatment was given during this period. A direct and significant relationship was observed between radiographic bone loss and probing attachment loss on a site basis (p = 0.0001, r2 = 0.018) and between subject means (p = 0.0014, r2 = 0.16). Radiographic and probing attachment change at all categories of sites, dichotomously classified as to not changing or loosing indicated 13% of sites were loosing by measurement of radiographic change and 9.6% were loosing by measurement of attachment change. Concordance in radiographic and attachment level change was found in 82% of sites examined. The relative diagnostic import of change in probing attachment or change in radiographic bone height requires treatment outcome studies based on use of diagnostic information of the 2 measuring techniques used singly and in combination.

  • 8.
    Hugoson, Anders
    et al.
    Högskolan i Jönköping, Hälsohögskolan, HHJ. Oral hälsa.
    Koch, G
    Hallonsten, A L
    Norderyd, J
    Aberg, A
    Caries prevalence and distribution in 3-20-year-olds in Jönköping, Sweden, in 1973, 1978, 1983, and 1993.2000Ingår i: Community Dentistry and Oral Epidemiology, ISSN 0301-5661, E-ISSN 1600-0528, Vol. 28, nr 2, s. 83-89Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Four cross-sectional studies were carried out in 1973, 1978, 1983, and 1993 to collect clinical and radiographic epidemiological data on the dental health status of the inhabitants of Jönköping, Sweden. The aim of the present paper was to use these data to analyze trends in the development of caries among children and adolescents between 1973 and 1993. Approximately 500 randomly selected individuals evenly distributed among the age groups 3, 5, 10, 15, and 20 years participated in each study. The main results show that the numbers of caries-free individuals increased in all age groups. In 1993, the mean number of decayed and filled tooth surfaces in the primary (dfs) and the permanent (DFS) dentition in all age groups was less than half of that found in 1973. Most of this decrease took place during the first 5 years, i.e., between 1973 and 1978. Between 1978 and 1983, only minor changes were observed. There was a further reduction of approximately 30%-50% in dfs/DFS between 1983 and 1993 in 3-, 5-, 10-, and 20-year-olds. The frequency distributions of dfs/DFS for 5- and 15-year-olds revealed an increasing skewness over time: in 1993, a large majority of the children and adolescents had a low or moderate caries severity while only a small group had high scores of dfs/DFS.

  • 9.
    Klingberg, Gunilla
    et al.
    Odontologiska fakulteten, Malmö högskola, Sweden.
    Norderyd, Johanna
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. Odontologiska institutionen, Jönköping, Sweden.
    Etik i børnetandplejen med særligt fokus på børn med funktionsnedsættelse eller langvarig sygdom2016Ingår i: Tandlaegebladet, ISSN 0039-9353, Vol. 120, nr 9, s. 800-806Artikel i tidskrift (Övrig (populärvetenskap, debatt, mm))
    Abstract [da]

    I dag konsulteres tandplejen af flere og flere børn og unge med funktionsnedsættelse eller langvarig sygdom. Disse patienter skal principielt tiltales og varetages på samme måde som alle andre patienter; men i behandlingen af børn med funktionsnedsættelse eller sygdom opstår der nok oftere situationer og etiske dilemmaer, hvor tandlægen føler behov for at standse op, reflektere og analysere, inden hun/ han går videre med behandlingen. Autonomi, integritet og informeret samtykke er vigtige begreber i mødet med patient og forældre, og tandlægen må også indimellem være parat til at vikariere autonomi.

  • 10. Machtei, E E
    et al.
    Cho, M I
    Dunford, R
    Norderyd, J
    Zambon, J J
    Genco, R J
    Clinical, microbiological, and histological factors which influence the success of regenerative periodontal therapy.1994Ingår i: Journal of Periodontology, ISSN 0022-3492, E-ISSN 1943-3670, Vol. 65, nr 2Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    The primary objectives of this double-blind, controlled clinical trial were to assess factor(s) which affect the success of guided tissue regeneration (GTR) procedures in mandibular Class II buccal furcation defects. Thirty subjects, with mandibular Class II furcation defects, were randomly assigned to one of two treatment groups; patients in Group A received oral hygiene instructions with scaling and root planing, while subjects in Group B received similar treatment but without subgingival scaling and root planing at the affected site. After initial oral hygiene instructions and scaling and root planing, GTR surgery was performed using ePTFE barrier membranes. Membranes were retrieved at 6 weeks and subjected to histological examination. Twelve months after regenerative therapy, clinical measurements and re-entry surgical measurements were repeated. Probing reduction (2.61 mm), horizontal probing attachment gain (2.59 mm), and vertical probing attachment gain (0.95 mm) were all significantly better compared to baseline. Likewise, significant improvements in furcation volume (8.0 microliters) and in bone measurements were observed at re-entry. There was no discernible difference between subjects for whom complete anti-infective therapy was deferred to the time of the surgery (Group B) compared to subjects in whom complete anti-infective therapy was performed as part of the hygienic phase of therapy (Group A). Pre-operative pocket depth was directly correlated with the magnitude of attachment gain as well as the amount of new bone formation in the furcation area. Subjects who maintained good oral hygiene and who had minimal gingival inflammation throughout the study demonstrated consistently better regenerative response.(ABSTRACT TRUNCATED AT 250 WORDS)

  • 11. Machtei, E E
    et al.
    Dunford, R
    Hausmann, E
    Grossi, S
    Norderyd, J
    Genco, R J
    A stepwise approach to determine periodontal attachment loss in longitudinal studies.1993Ingår i: Journal of Periodontal Research, ISSN 0022-3484, E-ISSN 1600-0765, Vol. 28, nr 6 Pt 2Artikel i tidskrift (Refereegranskat)
  • 12. Machtei, E E
    et al.
    Norderyd, J
    Koch, G
    Dunford, R
    Grossi, S
    Genco, R J
    The rate of periodontal attachment loss in subjects with established periodontitis.1993Ingår i: Journal of Periodontology, ISSN 0022-3492, E-ISSN 1943-3670, Vol. 64, nr 8Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    A stepwise approach to determine attachment level changes was utilized to assess the nature of progression of periodontal disease. Following initial screening, 51 subjects with established periodontitis were monitored quarterly for 9 more months. Probing depth (PD) and relative attachment level (RAL) were recorded using an automated, pressure sensitive probe system. To establish intra-examiner error, repeated measurements were performed for all sites at the final visit. An overall standard deviation (SD) for RAL repeated measurements was initially calculated (0.76 mm) using all 6,935 double measurements. Sites were sorted by factors which contribute to the error of attachment level measurements; i.e., pocket depth (shallow, moderate, deep), tooth type (molar, non-molar) and location (buccal, lingual). Data were sorted by the above 12 groups, and SD for repeated measurements was calculated separately for them. The ratio between these SD and the overall SD served as the corrective factor. Each patient's initial threshold (2 SD) was multiplied by these corrective factors thus resulting in 12 thresholds for each subject. Next, linear, exponential and logarithmic regression models were tested for each site, and the regression model showing the highest R value was chosen for that site. AL changes were tested against the patient's threshold for that site. Sites with attachment loss exceeding the threshold were deemed active. Five hundred eighty-one sites (8.3%) exhibited attachment loss exceeding the various thresholds. Of these, linear progression occurred in 195, logarithmic in 224, and exponential in 162 sites. Individual patient's attachment loss ranged from 0.6 to 19.4% of all sites.

  • 13.
    Norderyd, Johanna
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD.
    A biopsychosocial approach to functioning, oral health and specialist dental health care in children with disabilities – Swedish and international perspectives2017Doktorsavhandling, sammanläggning (Övrigt vetenskapligt)
    Abstract [en]

    Introduction: Maintaining good oral health may be more important for children with disabilities than others, since problems with oral health may increase the impact of a disability, or the medical condition may increase the risk for poor oral health. In addition, the risk for oral health problems may be influenced by the functioning of the child. Functioning can also affect the child’s ability to cooperate in the dental setting, and how dental treatment is performed. A medical diagnosis alone does not provide enough information about a child’s functioning, nor oral health. Thus, there is a need for a holistic perspective of oral health and dental health care in children with disabilities. The International Classification of Functioning, Disability and Health - Children and Youth (ICF-CY) enables a structured assessment of the biopsychosocial consequences of a health condition.

    Aim: The overall aim of this thesis was to investigate how biopsychosocial factors relate to oral health and specialist dental health care in children with disabilities in a Swedish, and an international context, with special focus on the experience of dental treatment under general anaesthesia (DGA).

    Material and methods: The research was conducted using a quantitative, cross-sectional, comparative and descriptive design. An ICF-CY Checklist for Oral Health was completed with data from a structured interview with children 0-16 years old, referred for specialist dental health care, and their parents/carers. Additional information was retrieved from dental and medical records. Three groups were included in data analyses: one large international group of 218 children from Argentina, France, Ireland and Sweden; one large Swedish group with 99 children with complex disabilities; and one international group of children with disabilities and manifest dental caries from Argentina, France and Sweden.

    Results: The ICF-CY Checklist for Oral Health identified both common and varying functional, social and environmental aspects relevant for oral health and oral health care in children who had been referred to specialist dental clinics in four countries. Swedish children with caries experience had been referred to a paediatric dental specialist clinic at a significantly older age than caries-free children. The medical diagnoses were not significantly related to dental caries or child functioning in the large Swedish group with complex disabilities and low caries prevalence, nor was there a significant relationship between dental caries and child functioning. Collinearity between dental caries and problems in the functioning factor ’Interpersonal interactions andrelationships’ was observed in the international group of children with disabilities and manifest dental caries. DGA sessions with combined medical and dental treatment were common in the large Swedish study group. Children with experience of DGA had more severe problems in intellectual functions than those without experience of DGA. Problems in interpersonal interactions and relationships increased, while problems with mobility decreased, the likelihood for children having had experience of DGA. On international group level, dmft/DMFT was significantly higher in children with the experience of DGA than in those without DGA experience, but looking at Argentina, France and Sweden separately, this was not true for the Swedish children. There were significant, international differences between the prevalence of dmft/DMFT, DGA and environmental barriers.

    Conclusion: The biopsychosocial perspective, operationalised by the ICF-CY, contributes a holistic view on oral health and specialist dental health care in children with disabilities. In addition to certain differences, children with different health status from different countries share many functional and environmental aspects, important for oral health and dental health care. Early referral to a paediatric specialist dental clinic seemed favourable for oral health. The medical diagnosis was not related to child functioning or dental caries. Child functioning had a significant impact on DGA, and in children with disabilities and manifest dental caries, child functioning also had a correlation with caries. The dental caries burden was a stronger factor than functioning for the experience of DGA, however, dental health organisation and country context seemed to matter the most. Combining dental and medical procedures during the same GA session is good use of resources for both the individual and the society. To ensure children with complex disabilities to have the possibility of achieving equivalent good oral health as other children, DGA is one important factor.

  • 14.
    Norderyd, Johanna
    et al.
    Odontologiska Institutionen i Jönköping.
    Aronsson, Johan
    Ryhov County Hospital, Jönköping, Sweden.
    Hypoplastic root cementum and premature loss of primary teeth in Coffin–Lowry syndrome: a case report2012Ingår i: International Journal of Paediatric Dentistry, ISSN 0960-7439, E-ISSN 1365-263X, Vol. 22, nr 2, s. 154-156Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background.  Coffin–Lowry syndrome (CLS) is a rare genetic disorder. The syndrome presents with psychomotor retardation, short stature, skeletal deformations, digit abnormalities, and distinctive facial features. Oral and dental findings in CLS are common and they include thick prominent lips, high palate, midline lingual furrow, hypodontia, microdontia, delayed eruption, and early tooth loss. Only one earlier case suggesting hypoplastic root cementum as cause for primary loss of teeth in CLS has been published.

    Case Report.  This case describes a 3-year-old boy with premature loss of primary incisors without preceding root resorption. In addition to the dental findings, the boy had several general signs and symptoms and the dental findings together with the other characteristics led to the clinical diagnosis of CLS, which later was genetically verified. Histological analysis of an extracted primary incisor showed hypoplastic root cementum.

    Conclusion.  Hypoplastic root cementum may explain early tooth loss in CLS. As early loss of primary teeth is rare, especially when there is no previous root resorption, the individual is likely to seek dental care. Thus, the dentist may play an important role in assisting in the diagnosing of CLS.

  • 15.
    Norderyd, Johanna
    et al.
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD.
    Faulks, D.
    Molina, G.
    Granlund, Mats
    Högskolan i Jönköping, Hälsohögskolan, HHJ, Avd. för beteendevetenskap och socialt arbete. Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. Högskolan i Jönköping, Högskolan för lärande och kommunikation, HLK, CHILD.
    Klingberg, G.
    What determines dental caries treatment under general anaesthesia in children with disabilities: number of cavities, child functioning or dental organisation?Manuskript (preprint) (Övrigt vetenskapligt)
  • 16.
    Norderyd, Johanna
    et al.
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Faulks, Denise
    CHU Clermont-Ferrand, Service d'Odontologie, Clermont-Ferrand, France.
    Molina, Gustavo
    Facultad de Odontología, Universidad Nacional de Córdoba, Cordoba, Argentina.
    Granlund, Mats
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. Högskolan i Jönköping, Högskolan för lärande och kommunikation, HLK, CHILD. Högskolan i Jönköping, Hälsohögskolan, HHJ, Avd. för beteendevetenskap och socialt arbete.
    Klingberg, Gunilla
    Departement of Pediatric Dentistry, Faculty of Odontology, Malmö University, Malmö, Sweden.
    Which factors most influence referral for restorative dental treatment under sedation and general anaesthesia in children with complex disabilities: Caries severity, child functioning or dental service organisation?2018Ingår i: International Journal of Paediatric Dentistry, ISSN 0960-7439, E-ISSN 1365-263X, Vol. 28, nr 1, s. 71-82Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background

    The UN Convention on the Rights of the Child gives all children right to the highest standard of services for treatment and rehabilitation. For children with disabilities, sedation and general anaesthesia (GA) are often indicated for dental treatment; however, accessibility to this varies. The International Classification of Functioning, Disability and Health – Child and Youth version (ICF-CY) enables a biopsychosocial description of children undergoing dental treatment.

    Aim

    To investigate conscious sedation and GA in children with complex disabilities and manifest caries and analyse how caries, child functioning, and dental service organisation relate to dental GA (DGA), comparing Argentina, France, and Sweden using the ICF-CY.

    Design

    Quantitative, cross-sectional; data collected through structured interviews, observation, and dental records.

    Results

    Sedation and DGA were common. Children with limitations in interpersonal interactions and relationships were more likely to have had DGA (OR: 5.3, P = 0.015). Level of caries experience was strongly correlated with experience of DGA. There were significant differences between countries regarding caries prevalence, sedation, DGA, and functional and environmental factors.

    Conclusions

    Although caries experience and child functioning are important, dental health service organisation had the most impact on the incidence of DGA, and for the use of conscious sedation, for children with complex disabilities.

  • 17.
    Norderyd, Johanna
    et al.
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Graf, Jonas
    Department of Otorhinolaryngology and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
    Marcusson, Agneta
    Department of Dentofacial Orthopedics, Maxillofacial Unit, Linköping University, Linköping, Sweden.
    Nilsson, Karolina
    Habilitation Centre, Ryhov County Hospital, Jönköping, Sweden.
    Sjöstrand, Eva
    Department for Child and Youth Habilitation, County Council of Östergötland, Linköping, Sweden.
    Steinwall, Gunilla
    Habilitation Centre, Ryhov County Hospital, Jönköping, Sweden.
    Ärleskog, Elinor
    Department of Oral & Maxillofacial Surgery, Linköping University Hospital, Linköping, Sweden.
    Bågesund, Mats
    Centre for Orthodontics and Paediatric Dentistry and Department of Medical and Health Sciences, Linköping University, Linköping, Sweden.
    Sublingual administration of atropine eyedrops in children with excessive drooling - a pilot study2017Ingår i: International Journal of Paediatric Dentistry, ISSN 0960-7439, E-ISSN 1365-263X, Vol. 27, nr 1, s. 22-29Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    BACKGROUND: Drooling can be a severe disability and have high impact on daily life. Reversible treatment is preferable.

    AIM: To analyse whether sublingual administration of atropine eyedrops is a useful reversible treatment option for severe drooling in children with disabilities.

    DESIGN: The study had a prospective, single-system research design. The participants served as their own controls. The study period was 3 weeks without treatment, 4 weeks with atropine eyedrop solution 10 mg/mL one drop a day followed by 4 weeks of one drop twice a day. Parents' rating of their child's drooling was assessed on a 100-mm VAS, and unstimulated salivary secretion rate measurement was performed together with notations about side effects and practicality.

    RESULTS: Parents' VAS assessment of drooling decreased from a median (range) of 74 (40-98) at baseline to 48 (18-88) (P = 0.05) and 32 (12-85) (P = 0.004) after 4 weeks of atropine once a day and another 4 weeks of atropine twice a day, respectively (n = 11). Unstimulated salivary secretion rates decreased from baseline to end of study (P = 0.032). Several parents complained about difficult administration. No irreversible side effects were noted.

    CONCLUSIONS: Sublingual atropine eyedrops may be an alternative for treatment of severe drooling in children with disabilities.

  • 18.
    Norderyd, Johanna
    et al.
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Klingberg, Gunilla
    Departement of Pediatric Dentistry, Faculty of Odontology, Malmö University, Malmö, Sweden.
    Faulks, Denise
    CHU Clermont-Ferrand, Service d'Odontologie, Clermont-Ferrand, France.
    Granlund, Mats
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. Högskolan i Jönköping, Högskolan för lärande och kommunikation, HLK, CHILD. Högskolan i Jönköping, Hälsohögskolan, HHJ, Avd. för beteendevetenskap och socialt arbete.
    Specialised dental care for children with complex disabilities focusing on child's functioning and need for general anaesthesia2017Ingår i: Disability and Rehabilitation, ISSN 0963-8288, E-ISSN 1464-5165, Vol. 39, nr 24, s. 2484-2491Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    PURPOSE: To describe and analyse dental care and treatment modalities for children with complex disabilities from a biopsychosocial perspective, with special focus on dental treatment under general anaesthesia (GA) and its relationship to child's functioning.

    METHOD: An ICF-CY Checklist for Oral Health was completed using structured interview, direct observations, and dental records for patients attending a specialist paediatric dentistry clinic. Descriptive and comparative data analysis was performed. Performance qualifiers from the ICF-CY component Activities and participation were used to calculate functional factors.

    RESULTS: Median referral age was 1.5 years and the majority were referred by their paediatrician. Almost all visited a dental hygienist regularly. Dental treatment under GA was common and was combined in 78% of sessions with medical treatment. Children with limitations in their interpersonal interactions and relationships were most likely to have dental GA.

    CONCLUSION: Children without caries experience had been referred for specialist dental care at an earlier age than children with caries experience. GA was a common treatment modality and dental and medical treatments were coordinated under the same GA for a majority of children. By using the ICF-CY, it was possible to identify functional limitations characterising children with disabilities that require dental treatment under GA. Implications for Rehabilitation Early referral to a specialist in paediatric dentistry is valuable for oral disease prevention in children with disabilities. Availability of dental treatment under general anaesthesia (GA) is also important. Combining dental and medical interventions during the same GA session optimises resources both for the individual and for the health organisation. Children with limitations in interpersonal interactions and relationships are more likely to need dental treatment under GA than other children.

  • 19.
    Norderyd, Johanna
    et al.
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD.
    Lillvist, Anne
    Mälardalens högskola.
    Klingberg, Gunilla
    Tandvårdshögskolan, Malmö högskola.
    Faulks, Denise
    Clermont Université, Université d’Auvergne, EA3847, Centre de Recherche en Odontologie Clinique, Clermont-Ferrand, France.
    Granlund, Mats
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. Högskolan i Jönköping, Högskolan för lärande och kommunikation, HLK, CHILD.
    Oral health, medical diagnoses, and functioning profiles in children with disabilities receiving paediatric specialist dental care – a study using the ICF-CY2015Ingår i: Disability and Rehabilitation, ISSN 0963-8288, E-ISSN 1464-5165, Vol. 37, nr 16, s. 1431-1438Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Purpose: To describe 0–16-year-old children with disabilities receiving paediatric specialist dental care from a biopsychosocial perspective, with focus on relationship between oral health, medical diagnosis, and functioning. Method: A questionnaire with an International Classification of Functioning, Disability and Health – Children and Youth version (ICF-CY) Checklist for Oral Health was completed using structured interview, direct observation, and information from dental records. Descriptive data analysis was performed together with principle component analysis to calculate factors of functioning used in cluster analysis in order to present functioning profiles. Results: Ninety-nine children with at least one major medical diagnosis were included. Twenty had previous caries experience. Two factors of functioning were calculated, labelled “Physical ability” and “Intellectual ability, communication, and behaviour”. Based on functioning profiles three clusters were determined. There were no statistically significant differences in caries experience between medical diagnoses or clusters. Conclusion: It was possible to identify profiles of functioning in children with disabilities receiving specialist dental care. Despite complex disabilities, the children had good oral health. Neither medical diagnosis nor functioning was found to have a clear relationship with oral health. To understand the environmental context leading to high-quality oral health, further studies of dental management in relation to medical and oral diagnoses and child functioning are needed.

    Implications for Rehabilitation

    • Child Oral Health

    • The use of ICF-CY makes it possible for paediatric dentists to assess children’s functioning, disability, and health from a biopsychosocial perspective, showing that the medical diagnosis alone is not enough to assess functions relevant for oral health in the individual.

    • In order to adequately organize, plan, and improve dental care for this heterogenic group of young patients with disabilities a biopsychosocial approach is valuable, aiding a holistic perspective on oral health.

    • Despite complex medical and functional disabilities that may challenge oral health and dental care, this study finds oral health to be good in a group of children with disabilities attending a specialist dental clinic.

  • 20.
    Pettersson, Maria
    et al.
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Bergendal, Birgitta
    Högskolan i Jönköping, Hälsohögskolan. National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Norderyd, Johanna
    Högskolan i Jönköping, Hälsohögskolan, HHJ. CHILD. National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Nilsson, Daniel
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Anderlid, Britt-Marie
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Nordgren, Ann
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Lindstrand, Anna
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity2017Ingår i: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 173, nr 5, s. 1396-1399Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Singleton-Merten syndrome (MIM 182250) is an autosomal dominant inherited disorder characterized by early onset periodontitis, root resorption, osteopenia, osteoporosis, and aortic valve or thoracic aorta calcification. The disorder can have significant intrafamilial phenotypic variability. Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G>A p.(Arg822Gln), in IFIH1 (interferon induced with helicase C domain 1), encoding MDA5 (Melanoma Differentiation-Associated protein 5). These data confirm the pathogenicity of IFIH1 c.2465G>A p.(Arg822Gln) for Singleton-Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder. In addition, we expand the Singleton-Merten phenotype by adding severe systemic lupus erythematosus (SLE) to the clinical picture. Investigations of known SLE genes as well as a single nucleotide polymorphism suggested to be involved in development of SLE were normal. 

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