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.
| Original language | English |
|---|---|
| Journal | Journal of Pediatrics |
| Volume | 164 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - 2014 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Clinical features and follow-up in patients with 22q11.2 deletion syndrome. / Cancrini, Caterina; Puliafito, Pamela; Digilio, Maria Cristina; Soresina, Annarosa; Martino, Silvana; Rondelli, Roberto; Consolini, Rita; Ruga, Ezia Maria; Cardinale, Fabio; Finocchi, Andrea; Romiti, Maria Luisa; Martire, Baldassarre; Bacchetta, Rosa; Albano, Veronica; Carotti, Adriano; Specchia, Fernando; Montin, Davide; Cirillo, Emilia; Cocchi, Guido; Trizzino, Antonino; Bossi, Grazia; Milanesi, Ornella; Azzari, Chiara; Corsello, Giovanni; Pignata, Claudio; Aiuti, Alessandro; Pietrogrande, Maria Cristina; Marino, Bruno; Ugazio, Alberto Giovanni; Plebani, Alessandro; Rossi, Paolo.
In: Journal of Pediatrics, Vol. 164, No. 6, 2014.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Clinical features and follow-up in patients with 22q11.2 deletion syndrome
AU - Cancrini, Caterina
AU - Puliafito, Pamela
AU - Digilio, Maria Cristina
AU - Soresina, Annarosa
AU - Martino, Silvana
AU - Rondelli, Roberto
AU - Consolini, Rita
AU - Ruga, Ezia Maria
AU - Cardinale, Fabio
AU - Finocchi, Andrea
AU - Romiti, Maria Luisa
AU - Martire, Baldassarre
AU - Bacchetta, Rosa
AU - Albano, Veronica
AU - Carotti, Adriano
AU - Specchia, Fernando
AU - Montin, Davide
AU - Cirillo, Emilia
AU - Cocchi, Guido
AU - Trizzino, Antonino
AU - Bossi, Grazia
AU - Milanesi, Ornella
AU - Azzari, Chiara
AU - Corsello, Giovanni
AU - Pignata, Claudio
AU - Aiuti, Alessandro
AU - Pietrogrande, Maria Cristina
AU - Marino, Bruno
AU - Ugazio, Alberto Giovanni
AU - Plebani, Alessandro
AU - Rossi, Paolo
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84901480908&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84901480908&partnerID=8YFLogxK
U2 - 10.1016/j.jpeds.2014.01.056
DO - 10.1016/j.jpeds.2014.01.056
M3 - Article
C2 - 24657119
AN - SCOPUS:84901480908
VL - 164
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 6
ER -