Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

Lima, Kari; Følling, Ivar; Eiklid, Kristin; Natvig, Solveig; Abrahamsen, Tore G.

doi:10.1007/s00431-010-1161-3

Cited by 34 publications

(39 citation statements)

References 36 publications

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“…In our study, four adult patients were diagnosed with 22q11.2 DS due to hypoparathyroidism (24). We demonstrate that hypoparathyroidism can be diagnosed at all ages in patients with 22q11.2 DS.…”

Section: Discussionsupporting

confidence: 47%

“…The patients' main clinical features are summarized in Table 1 and have also been reported elsewhere (15,24). Neonatal hypocalcemia was registered in the medical records of 15 of 59 patients (25%).…”

Section: Neonatal Hypocalcemiamentioning

confidence: 96%

“…Through the genetic institutions in Norway, 86 patients diagnosed with a 22q11.2 DS by fluorescent in situ hybridization (FISH) from 1993 to 2006, were invited to participate in a nationwide survey (24). Sixty-two patients agreed to participate, two dropped out before the study started due to medical reasons.…”

Section: Patientsmentioning

confidence: 99%

“…Fifty-nine patients, 31 females and 28 males, median age 9 years (range 1-54), from all parts of Norway were included. The diagnosis was verified using a multiplex ligation-dependent probe amplification assay (24 …”

Section: Patientsmentioning

confidence: 99%

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Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Lima

Abrahamsen

Wolff

et al. 2011

European Journal of Endocrinology

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Objective: To characterize the endocrine and autoimmune disturbances with emphasis on parathyroid dysfunction in patients with 22q11.2 deletion syndrome (22q11.2 DS). Design: In this nationwide survey; 59 patients (age 1-54 years) out of 86 invited with a 22q11.2 DS were recruited through all the genetic institutes in Norway. Methods: Data was collected from blood tests, medical records, a physical examination and a semistructured interview. We registered autoimmune diseases and measured autoantibodies, hormone levels and HLA types. Results: Twenty-eight (47%) patients had hypoparathyroidism or a history of neonatal or transient hypocalcemia. Fifteen patients had neonatal hypocalcemia. Fourteen patients had permanent hypoparathyroidism including seven (54%) of those above age 15 years. A history of neonatal hypocalcemia did not predict later occurring hypoparathyroidism. Parathyroid hormone levels were generally low indicating a low reserve capacity. Twenty-eight patients were positive for autoantibodies. Six (10%) persons had developed an autoimmune disease, and all were females (P!0.02). Hypoparathyroidism correlated with autoimmune diseases (P!0.05), however, no antibodies were detected against the parathyroid glands. Conclusions: Hypoparathyroidism and autoimmunity occur frequently in the 22q11.2 DS. Neonatal hypocalcemia is not associated with later development of permanent hypoparathyroidism. Hypoparathyroidism may present at any age, also in adults, and warrants regular measurement of calcium levels. Hypoparathyroidism and autoimmunity occur frequently together. Our findings of autoimmune diseases in 10% of the patients highlight the importance of stringent screening and follow-up routines.

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Section: Discussionsupporting

confidence: 47%

Section: Neonatal Hypocalcemiamentioning

confidence: 96%

Section: Patientsmentioning

confidence: 99%

Section: Patientsmentioning

confidence: 99%

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Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Lima

Abrahamsen

Wolff

et al. 2011

European Journal of Endocrinology

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“…In infants, congenital cardiac anomalies [6,7], cleft palate, feeding difficulties with nasal reflux, congenital thymic hypoplasia and neonatal hypocalcemia can lead to the diagnosis of 22q11DS. The majority of the children diagnosed after the age of two present with speech-language impairment, developmental delay or learning difficulties and recurrent infections [8]. The median age of diagnosis of children referred by pediatric cardiologists is 0.5 years, whereas the median age is 8 years for those referred by speech pathologists or cleft palate surgeons and 11.2 years for children referred by neurologists/psychiatrists [9].…”

Section: Introductionmentioning

confidence: 99%

Presenting symptoms in adults with the 22q11 deletion syndrome

Vogels¹,

Schevenels²,

Cayenberghs³

et al. 2014

European Journal of Medical Genetics

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A definitive molecular diagnosis of 22q11 Deletion Syndrome (22q11DS) even if occurring later in life, has important genetic, medical and emotional impact on the patients and their families. The aim of this study is to describe presenting symptoms and age at diagnosis in an adult 22q11DS population A retrospective study was performed on 65 individuals diagnosed with 22q11DS at adult age.Data were collected on adults referred to the genetic clinic or actively recruited through systematic diagnostic examination in both institutions and a psychiatric unit for intellectually disabled. Presenting symptoms were categorized into seven groups: familial occurrence, intellectual disability, cardiac anomalies, palatal anomalies, facial dysmorphic features, psychiatric problems and 'other' (comprising all other features associated with 22q11DS).Age at diagnosis was defined as the age at which the 22q11.2 deletion was detected by fluorescence in situ hybridization or comparative genomic hybridization. Ascertainment subgroups were different in presenting symptoms and age at diagnosis. Adults were referred to the genetic clinic mainly because of familial occurrence, cardiac defects and psychiatric disorders whereas adults diagnosed in institutions for intellectually disabled presented mainly with moderate to severe intellectual disability and psychotic disorders. Adults diagnosed at the psychiatric unit for intellectually disabled had a variety of psychiatric disorders but none of them had additional physical features.This emphasizes the need to stay alert for presenting symptoms such as conotruncal heart defects or moderate to severe intellectual disability in combination with a history of psychiatric disorders, even in the absence of obvious physical features.

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Antibody deficiency in adults with 22q11.2 deletion syndrome

Björk

Óskarsdóttir

Åndersson

et al. 2012

American J of Med Genetics Pt A

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There are limited data on immunological disorders, infection profile, and autoimmunity among adults with the 22q11.2 deletion syndrome (22q11.2DS) in the literature. To expand this knowledge base, we evaluated immunoglobulin levels, lymphocyte subsets, and T‐cell function in 26 adults, consecutively referred to our 22q11.2DS multidisciplinary team. Their medical records were also reviewed with respect to frequency and severity of infections and autoimmune disorders. Six patients had low immunoglobulin levels; among these patients, one had a combined IgA and IgG1 deficiency, one had an isolated IgG3 deficiency, and four had a profound antibody deficiency comparable to common variable immunodeficiency (CVID). Three of the patients with profound antibody deficiency showed signs of reduced T‐cell function measured as a low response to mitogen and/or antigen stimulation. The four patients with profound antibody deficiency suffered from more severe infections than the rest of the patient group. Three of them also had a history of both immune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AHA). Our results suggest that a subgroup of individuals with 22q11.2DS can develop a severe antibody deficiency associated with lower respiratory tract infections and autoimmune conditions. Early diagnosis of hypogammaglobulinemia among these individuals is important in order to provide optimal treatment. We therefore recommend an immunological evaluation and follow‐up among adults with 22q11.2DS who have a history of autoimmune conditions or recurrent infections. © 2012 Wiley Periodicals, Inc.

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Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

Cited by 34 publications

References 36 publications

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Presenting symptoms in adults with the 22q11 deletion syndrome

Antibody deficiency in adults with 22q11.2 deletion syndrome

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