Dental health care for children with Down syndrome: Parents' description of their children's needs in dental health care settings.

A visit to the dental clinic may be challenging for a child with Down syndrome due to medical and oral health problems as well as communication problems. The aim of the present study was to explore how parents of children with Down syndrome describe their child's needs in the dental health care setting. In a survey concerning parental experiences with dental health care in Sweden, free comments were analysed with content analysis and resulted in five categories: "Need for continuity of care in dental health care"; "Need for dental health care professionals to have knowledge and expertise in caring for children with Down syndrome and other disabilities"; "Need for dental health care professionals to use a caring approach with children with Down syndrome"; "Need for the child with Down syndrome to be prepared to participate in their dental health care visit" and "Need for the child with Down syndrome to be given the same rights as typically developing children".

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?

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.

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

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.

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.

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.

Specialised dental care for children with complex disabilities focusing on child's functioning and need for general anaesthesia.

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.

Sublingual administration of atropine eyedrops in children with excessive drooling - a pilot study.

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.

Oral health, medical diagnoses, and functioning profiles in children with disabilities receiving paediatric specialist dental care - a study using the ICF-CY.

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.

WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

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.

Using the International Classification of Functioning, Disability and Health (ICF) to describe children referred to special care or paediatric dental services.

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.

Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report.

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.

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.

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.