Affiliation: Sahlgrenska University Hospital
- 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..Of those diagnosed after 2 years of age, the majority presented with speech-language impairment, developmental delay or learning difficulties and recurrent infections. Characteristic mild dysmorphic features were noticed in all children...
- 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...
- 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..Around 40% still had some hearing impairment, in most cases with a mild to moderate conductive component. Thus, a high prevalence of speech and hearing problems seems to be a part of the phenotype in adults with 22q11.2DS...
- 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...
- 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...