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Article ; Online: Approaches to studying the impact of 22q11.2 copy number variants.

Bassett, Anne S / McDonald-McGinn, Donna M / Boot, Erik / Óskarsdóttir, Sólveig / Yuen, Ryan K C

2023 Volume 110, Issue 7, Page(s) 1216–1218

MeSH term(s)	Humans ; DNA Copy Number Variations/genetics ; Chromosome Deletion ; DiGeorge Syndrome/genetics ; Chromosomes, Human, Pair 22
Language	English
Publishing date	2023-07-07
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2023.05.008
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Article ; Online: Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.

Goldmuntz, Elizabeth / Bassett, Anne S / Boot, Erik / Marino, Bruno / Moldenhauer, Julie S / Óskarsdóttir, Sólveig / Putotto, Carolina / Rychik, Jack / Schindewolf, Erica / McDonald-McGinn, Donna M / Blagowidow, Natalie

Prenatal diagnosis

2024

Abstract: Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies. Many are diagnosed with 22q11.2DS when they present as a fetus, ... ...

Abstract	Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies. Many are diagnosed with 22q11.2DS when they present as a fetus, newborn or infant with characteristic cardiac findings and subsequently undergo genetic testing. The presence of an aortic arch anomaly with characteristic intracardiac anomalies increases the likelihood that the patient has 22q11.2 DS, but those with an aortic arch anomaly and normal intracardiac anatomy are also at risk. It is particularly important to identify the fetus at risk for 22q11.2DS in order to prepare the expectant parents and plan postnatal care for optimal outcomes. Fetal anatomy scans now readily identify aortic arch anomalies (aberrant right subclavian artery, right sided aortic arch or double aortic arch) in the three-vessel tracheal view. Given the association of 22q11.2DS with aortic arch anomalies with and without intracardiac defects, this review highlights the importance of recognizing the fetus at risk for 22q11.2 deletion syndrome with an aortic arch anomaly and details current methods for genetic testing. To assist in the prenatal diagnosis of 22q11.2DS, this review summarizes the seminal features of 22q11.2DS, its prenatal presentation and current methods for genetic testing.
Language	English
Publishing date	2024-04-09
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.6566
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Article: Visual Function And Quality Of Life In A Cohort Of Swedish Children With Juvenile Idiopathic Arthritis.

Taha, Rezhna / Papadopoulou, Maria / Zetterberg, Madeleine / Oskarsdottir, Solveig / Grönlund, Marita Andersson

Clinical ophthalmology (Auckland, N.Z.)

2019 Volume 13, Page(s) 2081–2091

Abstract: Purpose: To evaluate quality of life (QoL) in children with juvenile idiopathic arthritis (JIA).: Methods: Forty children with a mean age of 7.9 years were included. The children underwent an ophthalmological examination and completed questionnaires ... ...

Abstract	Purpose: To evaluate quality of life (QoL) in children with juvenile idiopathic arthritis (JIA). Methods: Forty children with a mean age of 7.9 years were included. The children underwent an ophthalmological examination and completed questionnaires on physical function (CHAQ) and vision-related (VR) QoL (EYE-Q). Results: No differences regarding visual acuity (VA), refraction, intraocular pressure or physical or VRQoL were found between those with JIA without (n=33) and those with JIA-associated uveitis (n=7). When comparing physical function measured by CHAQ disability index and JIA subtype, a difference was found; children with polyarthritis scored the worst (p=0.0098). Children with subnormal VA scored worse on EYE-Q compared with those with normal VA (p=0.013). We found correlations between duration of JIA and CHAQ disability index (r=-0.42, p=0.0007) and CHAQ well-being (r=-0.34, p=0.022). Conclusion: This study indicates the importance of measuring not only physical function but also VRQoL in children with JIA and JIA-associated uveitis.
Language	English
Publishing date	2019-10-24
Publishing country	New Zealand
Document type	Journal Article
ISSN	1177-5467
ISSN	1177-5467
DOI	10.2147/OPTH.S202486
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Article ; Online: Assessment of the outcome of ophthalmological screening for uveitis in a cohort of Swedish children with juvenile idiopathic arthritis.

Papadopoulou, Maria / Zetterberg, Madeleine / Oskarsdottir, Solveig / Andersson Grönlund, Marita

Acta ophthalmologica

2017 Volume 95, Issue 7, Page(s) 741–747

Abstract: Purpose: To describe clinical features, risk factors and complications in a cohort of Swedish children with juvenile idiopathic arthritis (JIA) screened for uveitis between 2002 and 2011.: Methods: Medical records of 299 children with JIA (93 male, ... ...

Abstract	Purpose: To describe clinical features, risk factors and complications in a cohort of Swedish children with juvenile idiopathic arthritis (JIA) screened for uveitis between 2002 and 2011. Methods: Medical records of 299 children with JIA (93 male, 206 female; median age 5.0 years at diagnosis) were retrospectively scrutinized focusing on subtype of JIA, onset of arthritis/uveitis, presence of antinuclear antibodies (ANA) and ophthalmological status. Results: Uveitis was found in 32 (11%) children, 78% bilaterally affected. The median age of arthritis onset in children who developed uveitis was 2.5 years (range 1-10) versus 5.0 years (range 1-15) in those who did not. Sex ratio was 3.5:1 (girl:boy). The most prevalent JIA subtype was oligoarthritis (75%). All but one child with uveitis was found to be ANA (+). The median interval between diagnosis of arthritis and uveitis was 12 months. Only one child developed uveitis between the fourth and fifth years after arthritis onset. Ocular complications were recorded in 45.6% (26/57 affected eyes) at last follow-up. On univariate analysis, both young age at arthritis onset and ANA positivity were possible predictors for developing uveitis, but on multivariate analysis, the latter was the most important predictor (HR 16.25, 95%; CI 2.19-120.44; p = 0.006, Cox regression analysis). Conclusion: Almost all of the children developing JIA-associated uveitis did so within 4 years after arthritis onset, a fact that accentuates the importance of early initiation of ophthalmological screening and more frequent regular follow-ups during the first 4 years. The most important predictor for developing uveitis was ANA positivity.
Language	English
Publishing date	2017-11
Publishing country	England
Document type	Journal Article
ZDB-ID	2408333-1
ISSN	1755-3768 ; 1755-375X
ISSN (online)	1755-3768
ISSN	1755-375X
DOI	10.1111/aos.13388
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Article ; Online: Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Blagowidow, Natalie / Nowakowska, Beata / Schindewolf, Erica / Grati, Francesca Romana / Putotto, Carolina / Breckpot, Jeroen / Swillen, Ann / Crowley, Terrence Blaine / Loo, Joanne C. Y. / Lairson, Lauren A. / Óskarsdóttir, Sólveig / Boot, Erik / Garcia-Minaur, Sixto / Cristina Digilio, Maria / Marino, Bruno / Coleman, Beverly / Moldenhauer, Julie S. / Bassett, Anne S. / McDonald-McGinn, Donna M.

Genes (Basel). 2023 Jan. 06, v. 14, no. 1

2023

Abstract: Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. ... ...

Abstract	Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal diagnostic testing include a parent or child with the 22q11.2 microdeletion or suggestive prenatal screening results. Definitive diagnosis by genetic testing of chorionic villi or amniocytes using a chromosomal microarray will detect clinically relevant microdeletions. Screening options include noninvasive prenatal screening (NIPS) and imaging. The potential benefits and limitations of each screening method should be clearly conveyed. NIPS, a genetic option available from 10 weeks gestational age, has a 70–83% detection rate and a 40–50% PPV for most associated 22q11.2 microdeletions. Prenatal imaging, usually by ultrasound, can detect several physical features associated with 22q11.2DS. Findings vary, related to detection methods, gestational age, and relative specificity. Conotruncal cardiac anomalies are more strongly associated than skeletal, urinary tract, or other congenital anomalies such as thymic hypoplasia or cavum septi pellucidi dilatation. Among others, intrauterine growth restriction and polyhydramnios are additional associated, prenatally detectable signs. Preconception genetic counselling should be offered to males and females with 22q11.2DS, as there is a 50% risk of transmission in each pregnancy. A previous history of a de novo 22q11.2 microdeletion conveys a low risk of recurrence. Prenatal genetic counselling includes an offer of screening or diagnostic testing and discussion of results. The goal is to facilitate optimal perinatal care.
Keywords	children ; chromosomes ; gestational age ; microarray technology ; pregnancy ; prenatal development ; risk ; ultrasonics ; urinary tract
Language	English
Dates of publication	2023-0106
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14010160
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Long-term clinical effects of early thymectomy: Associations with autoimmune diseases, cancer, infections, and atopic diseases.

Gudmundsdottir, Judith / Söderling, Jonas / Berggren, Håkan / Óskarsdóttir, Sólveig / Neovius, Martin / Stephansson, Olof / Ekwall, Olov

The Journal of allergy and clinical immunology

2018 Volume 141, Issue 6, Page(s) 2294–2297.e8

MeSH term(s)	Autoimmune Diseases/epidemiology ; Autoimmune Diseases/etiology ; Cohort Studies ; Female ; Humans ; Hypersensitivity/epidemiology ; Hypersensitivity/etiology ; Infant ; Infection/epidemiology ; Infection/etiology ; Male ; Neoplasms/epidemiology ; Neoplasms/etiology ; Thymectomy/adverse effects
Language	English
Publishing date	2018-02-14
Publishing country	United States
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	121011-7
ISSN	1097-6825 ; 1085-8725 ; 0091-6749
ISSN (online)	1097-6825 ; 1085-8725
ISSN	0091-6749
DOI	10.1016/j.jaci.2018.01.037
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Article ; Online: Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.

Blagowidow, Natalie / Nowakowska, Beata / Schindewolf, Erica / Grati, Francesca Romana / Putotto, Carolina / Breckpot, Jeroen / Swillen, Ann / Crowley, Terrence Blaine / Loo, Joanne C Y / Lairson, Lauren A / Óskarsdóttir, Sólveig / Boot, Erik / Garcia-Minaur, Sixto / Cristina Digilio, Maria / Marino, Bruno / Coleman, Beverly / Moldenhauer, Julie S / Bassett, Anne S / McDonald-McGinn, Donna M

Genes

2023 Volume 14, Issue 1

Abstract	Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal diagnostic testing include a parent or child with the 22q11.2 microdeletion or suggestive prenatal screening results. Definitive diagnosis by genetic testing of chorionic villi or amniocytes using a chromosomal microarray will detect clinically relevant microdeletions. Screening options include noninvasive prenatal screening (NIPS) and imaging. The potential benefits and limitations of each screening method should be clearly conveyed. NIPS, a genetic option available from 10 weeks gestational age, has a 70-83% detection rate and a 40-50% PPV for most associated 22q11.2 microdeletions. Prenatal imaging, usually by ultrasound, can detect several physical features associated with 22q11.2DS. Findings vary, related to detection methods, gestational age, and relative specificity. Conotruncal cardiac anomalies are more strongly associated than skeletal, urinary tract, or other congenital anomalies such as thymic hypoplasia or cavum septi pellucidi dilatation. Among others, intrauterine growth restriction and polyhydramnios are additional associated, prenatally detectable signs. Preconception genetic counselling should be offered to males and females with 22q11.2DS, as there is a 50% risk of transmission in each pregnancy. A previous history of a de novo 22q11.2 microdeletion conveys a low risk of recurrence. Prenatal genetic counselling includes an offer of screening or diagnostic testing and discussion of results. The goal is to facilitate optimal perinatal care.
MeSH term(s)	Pregnancy ; Male ; Child ; Female ; Humans ; DiGeorge Syndrome/diagnosis ; DiGeorge Syndrome/genetics ; Prenatal Diagnosis/methods ; Heart Defects, Congenital/genetics ; Genetic Testing ; Fetal Diseases/genetics
Language	English
Publishing date	2023-01-06
Publishing country	Switzerland
Document type	Review ; Journal Article
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14010160
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Article ; Online: Speech and hearing in adults with 22q11.2 deletion syndrome.

Persson, Christina / Friman, Vanda / Óskarsdóttir, Sólveig / Jönsson, Radi

American journal of medical genetics. Part A

2012 Volume 158A, Issue 12, Page(s) 3071–3079

Abstract: The purpose of the study was to investigate the prevalence of velopharyngeal impairment, compensatory articulation, reduced intelligibility, and to rate the general impression of speech in adults with 22q11.2 deletion syndrome. The second purpose was to ... ...

Abstract	The purpose of the study was to investigate the prevalence of velopharyngeal impairment, compensatory articulation, reduced intelligibility, and to rate the general impression of speech in adults with 22q11.2 deletion syndrome. The second purpose was to study the prevalence and type of hearing impairment in these adults. A referred, consecutive series of 24 adults with confirmed 22q11.2 deletion, 16 female and 8 males, with a mean age of 25 years (19-38 years) was included in the study. A blind assessment of speech by three experienced speech-language pathologists was performed. Sixteen (66%) patients had a mild to severe velopharyngeal impairment. The most prevalent symptoms of velopharygeal impairment were hypernasality and audible nasal airflow. The mean nasalance score was 33% (6-66%). Only two patients had disordered articulation; one of these had glottal articulation. A mean of 96% (88-100%) of single words were rated to be intelligible. To achieve these results half of the patients previously had velopharyngeal flap surgery. Forty-one percent (9/22) had mild-moderate hearing impairment; three had sensorineural type, four conductive and two had a mixed type. In conclusion the majority of the patients had no articulation errors and good intelligibility; while one-third still had moderate to severe problems with velopharyngeal impairment. 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.
MeSH term(s)	Adult ; Chromosomes, Human, Pair 22 ; DiGeorge Syndrome/genetics ; Female ; Hearing/genetics ; Hearing Loss/diagnosis ; Hearing Loss/genetics ; Humans ; Male ; Speech/physiology ; Speech Disorders/diagnosis ; Speech Disorders/genetics ; Velopharyngeal Insufficiency/diagnosis ; Velopharyngeal Insufficiency/genetics ; Young Adult
Language	English
Publishing date	2012-11-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.35589
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Article ; Online: Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.

Framme, Jenny Lingman / Lundqvist, Christina / Lundell, Anna-Carin / van Schouwenburg, Pauline A / Lemarquis, Andri L / Thörn, Karolina / Lindgren, Susanne / Gudmundsdottir, Judith / Lundberg, Vanja / Degerman, Sofie / Zetterström, Rolf H / Borte, Stephan / Hammarström, Lennart / Telemo, Esbjörn / Hultdin, Magnus / van der Burg, Mirjam / Fasth, Anders / Oskarsdóttir, Sólveig / Ekwall, Olov

Journal of clinical immunology

2022 Volume 42, Issue 3, Page(s) 618–633

Abstract: Background: Population-based neonatal screening using T-cell receptor excision circles (TRECs) identifies infants with profound T lymphopenia, as seen in cases of severe combined immunodeficiency, and in a subgroup of infants with 22q11 deletion ... ...

Abstract	Background: Population-based neonatal screening using T-cell receptor excision circles (TRECs) identifies infants with profound T lymphopenia, as seen in cases of severe combined immunodeficiency, and in a subgroup of infants with 22q11 deletion syndrome (22q11DS). Purpose: To investigate the long-term prognostic value of low levels of TRECs in newborns with 22q11DS. Methods: Subjects with 22q11DS and low TRECs at birth (22q11Low, N=10), matched subjects with 22q11DS and normal TRECs (22q11Normal, N=10), and matched healthy controls (HC, N=10) were identified. At follow-up (median age 16 years), clinical and immunological characterizations, covering lymphocyte subsets, immunoglobulins, TRECs, T-cell receptor repertoires, and relative telomere length (RTL) measurements were performed. Results: At follow-up, the 22q11Low group had lower numbers of naïve T-helper cells, naïve T-regulatory cells, naïve cytotoxic T cells, and persistently lower TRECs compared to healthy controls. Receptor repertoires showed skewed V-gene usage for naïve T-helper cells, whereas for naïve cytotoxic T cells, shorter RTL and a trend towards higher clonality were found. Multivariate discriminant analysis revealed a clear distinction between the three groups and a skewing towards Th17 differentiation of T-helper cells, particularly in the 22q11Low individuals. Perturbations of B-cell subsets were found in both the 22q11Low and 22q11Normal group compared to the HC group, with larger proportions of naïve B cells and lower levels of memory B cells, including switched memory B cells. Conclusions: This long-term follow-up study shows that 22q11Low individuals have persistent immunologic aberrations and increased risk for immune dysregulation, indicating the necessity of lifelong monitoring. Clinical implications: This study elucidates the natural history of childhood immune function in newborns with 22q11DS and low TRECs, which may facilitate the development of programs for long-term monitoring and therapeutic choices.
MeSH term(s)	22q11 Deletion Syndrome ; Adolescent ; DNA ; Follow-Up Studies ; Humans ; Infant, Newborn ; Lymphopenia/diagnosis ; Neonatal Screening ; Receptors, Antigen, T-Cell/genetics ; Severe Combined Immunodeficiency/diagnosis
Chemical Substances	Receptors, Antigen, T-Cell ; DNA (9007-49-2)
Language	English
Publishing date	2022-01-26
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	779361-3
ISSN	1573-2592 ; 0271-9142
ISSN (online)	1573-2592
ISSN	0271-9142
DOI	10.1007/s10875-021-01201-5
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Article ; Online: Oral health and 22q11 deletion syndrome: thoughts and experiences from the parents' perspectives.

Klingberg, Gunilla / Hallberg, Ulrika / Oskarsdóttir, Sólveig

International journal of paediatric dentistry

2010 Volume 20, Issue 4, Page(s) 283–292

Abstract: Background: 22q11 deletion syndrome (22q11DS) is one of the most common multiple anomaly syndromes, and many dentists are likely to meet patients with the syndrome. Odontological research has focused on describing and analysing conditions/concepts based ...

Abstract	Background: 22q11 deletion syndrome (22q11DS) is one of the most common multiple anomaly syndromes, and many dentists are likely to meet patients with the syndrome. Odontological research has focused on describing and analysing conditions/concepts based on the current state of knowledge within the dental profession. Yet, these research topics are not necessarily the most important issues for the patients. Aims: To explore and describe, by use of Grounded theory, parents' experiences of oral health issues and needs for dental care in their children with 22q11DS. Design: Twelve parents from different regions in Sweden were interviewed. Analyses were carried out according to Grounded theory. Results: Parents recognised good oral health as important for the wellbeing of their children. Oral health was a concern and the parents described the fight for this as struggling in vain for good oral health in their child. Conclusions: Parents not only described their children's oral health as important but also hard to gain. Thus, it is important that all patients with disabilities, regardless of whether there is a defined medical diagnosis or not, are identified and well taken care of in the dental care system.
MeSH term(s)	Adolescent ; Adult ; Attitude to Health ; Child ; Child, Preschool ; Dental Care for Disabled ; Dental Caries/etiology ; Dental Enamel/abnormalities ; Dentist-Patient Relations ; DiGeorge Syndrome/complications ; DiGeorge Syndrome/psychology ; Feeding Behavior ; Female ; Health Knowledge, Attitudes, Practice ; Health Services Accessibility ; Health Services Needs and Demand ; Health Status ; Humans ; Male ; Oral Health ; Oral Hygiene ; Parents/psychology ; Professional-Family Relations ; Sweden ; Tooth Discoloration/congenital
Language	English
Publishing date	2010-07
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1070942-3
ISSN	1365-263X ; 0960-7439
ISSN (online)	1365-263X
ISSN	0960-7439
DOI	10.1111/j.1365-263X.2010.01052.x
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