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J Pediatr. 2014 Jun;164(6):1475-80.e2. doi: 10.1016/j.jpeds.2014.01.056. Epub 2014 Mar 20.

Clinical features and follow-up in patients with 22q11.2 deletion syndrome.

Author information

1
University Department of Pediatrics, Bambino Gesù Children's Hospital and Tor Vergata University, Rome, Italy. Electronic address: Cancrini@med.uniroma2.it.
2
University Department of Pediatrics, Bambino Gesù Children's Hospital and Tor Vergata University, Rome, Italy.
3
Department of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.
4
Pediatrics Clinic and Institute of Molecular Medicine "A. Nocivelli," University and Spedali Civili, Brescia, Italy.
5
Department of Pediatrics, University of Turin, Turin, Italy.
6
Department of Pediatrics, University of Bologna, Bologna, Italy.
7
Department of Pediatrics and Reproductive Medicine, University of Pisa, Pisa, Italy.
8
Department of Pediatrics, Division of Pediatric Infectious Diseases, University of Padua, Padua, Italy.
9
Department of Allergy and Pulmonology, Pediatric Hospital Giovanni XXIII, University of Bari, Bari, Italy.
10
Department of Pediatrics "Federico Vecchio" and Department of Biomedicine of the Development Age, University of Bari, Bari, Italy.
11
Pediatric Immunology San Raffaele Telethon Institute for Gene Therapy (TIGET), San Raffaele Hospital, Milan, Italy.
12
Department of Pediatrics, Salesi Hospital, Ancona, Italy.
13
Department of Pediatric Cardiac Surgery, Bambino Gesù Children's Hospital, Rome, Italy.
14
Department of Pediatrics, "Federico II" University of Naples, Naples, Italy.
15
Department of Pediatrics and Neonatology, University of Bologna, Bologna, Italy.
16
Department of Pediatric Oncology and Hematology, G. Di Cristina Children's Hospital, Palermo, Italy.
17
Department of Pediatrics IRCCS San Matteo Hospital Foundation, Pavia, Italy.
18
Department of Pediatrics, Division of Pediatric Cardiology, University of Padua Medical School, Padua, Italy.
19
Department of Pediatrics, Anna Meyer Children's Hospital, University of Florence, Florence, Italy.
20
Department of Pediatrics, University of Palermo, Palerno, Italy.
21
University Department of Pediatrics, Bambino Gesù Children's Hospital and Tor Vergata University, Rome, Italy; Pediatric Immunology San Raffaele Telethon Institute for Gene Therapy (TIGET), San Raffaele Hospital, Milan, Italy.
22
Department of Pediatrics, Ca' Granda IRCCS Foundation, University of Milan, Milan, Italy.
23
Department of Pediatrics, "La Sapienza" University, Rome, Italy.
24
Division of Rheumatology, Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy.

Abstract

OBJECTIVE:

To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease.

STUDY DESIGN:

A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis.

RESULTS:

The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations (P = .015) and speech disorders (P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis.

CONCLUSIONS:

Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

PMID:
24657119
DOI:
10.1016/j.jpeds.2014.01.056
[Indexed for MEDLINE]

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