Research Topics
| Sólveig OskarsdóttirSummaryAffiliation: Sahlgrenska University Hospital Country: Sweden Publications
| Collaborators
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Detail Information
Publications
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western SwedenS Oskarsdóttir
Department of Paediatrics, Goteborg University, Gothenburg, Sweden
Arch Dis Child 89:148-51. 2004..2. These syndromes are usually referred to as the 22q11 deletion syndrome (22q11DS), which has a wide phenotypic spectrum and an estimated incidence of one in 4000 births...
Presenting phenotype in 100 children with the 22q11 deletion syndromeSólveig Oskarsdóttir
Department of Paediatrics, The Queen Silvia Children s Hospital, SE 416 85 Goteborg, Sweden
Eur J Pediatr 164:146-53. 2005..Increased awareness and knowledge among general paediatricians and other specialists who meet these children early in life is needed to reduce the diagnostic delay...
Disabilities and cognition in children and adolescents with 22q11 deletion syndromeS Oskarsdóttir
The Queen Silvia Children s Hospital, Department of Paediatrics, Sahlgrenska Academy at Goteborg University, SE 416 85 Goteborg, Sweden
Dev Med Child Neurol 47:177-84. 2005..Although the severity and number of problems varies, the combination of impairments and disabilities results in a low level of participation...
Facial features in children with the 22q11 deletion syndromeS Oskarsdóttir
Department of Paediatrics, The Sahlgrenska Academy, University of Gothenburg, Goteborg, Sweden
Acta Paediatr 97:1113-7. 2008..To find a pattern of the most typical facial features in children with the 22q11 deletion syndrome, which could serve as an aid in identifying patients with the syndrome...
Oral health and 22q11 deletion syndrome: thoughts and experiences from the parents' perspectivesGunilla Klingberg
Mun H Center, National Orofacial Resource Centre for Rare Disorders, and Department of Pediatric Dentistry, The Sahlgrenska Academy at the University of Gothenburg, Goteborg, Sweden
Int J Paediatr Dent 20:283-92. 2010..Yet, these research topics are not necessarily the most important issues for the patients...
Attention deficits in children with 22q.11 deletion syndromeLena Niklasson
Department of Child and Adolescent Psychiatry, University of Goteborg, Kungsgatan 12, SE 411 19 Göteborg, Sweden
Dev Med Child Neurol 47:803-7. 2005..A tendency of inferiority on auditory compared with visual tests was noted but there were no specific problems with the focus-execute aspect of attention...
Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndromeLena Niklasson
Child Neuropsychiatry Clinic, The Queen Silvia Children s Hospital, Goteborg, Sweden
Res Dev Disabil 30:763-73. 2009..Neuropsychiatric and neuropsychological evaluations are indicated as parts of the routine clinical assessment of individuals with 22q11 deletion syndrome...
Caries-related saliva properties in individuals with 22q11 deletion syndromeGunilla Klingberg
Mun H Center, National Orofacial Resource Center, Goteborg, Sweden
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 103:497-504. 2007....
Antibody deficiency in adults with 22q11.2 deletion syndromeAron H Björk
Department of Infectious Diseases, The Sahlgrenska Academy at the University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden
Am J Med Genet A 158:1934-40. 2012..We therefore recommend an immunological evaluation and follow-up among adults with 22q11.2DS who have a history of autoimmune conditions or recurrent infections...
Speech and hearing in adults with 22q11.2 deletion syndromeChristina Persson
Division of Speech and Language Pathology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Am J Med Genet A 158:3071-9. 2012..Thus, a high prevalence of speech and hearing problems seems to be a part of the phenotype in adults with 22q11.2DS. © 2012 Wiley Periodicals, Inc...
Morphological appearance and chemical composition of enamel in primary teeth from patients with 22q11 deletion syndromeGunilla Klingberg
Mun H Center, National Orofacial Resource Center for Rare Disorders, Goteborg, Sweden
Eur J Oral Sci 113:303-11. 2005..The result supports the hypothesis of under-reporting of both hypocalcemia and hypoparathyroidism in patients with 22q11 deletion syndrome...
