Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study

2022 ◽  
Vol 89 (1) ◽  
pp. 105270
Author(s):  
Aurore Le Quellec ◽  
Thomas Edouard ◽  
Séverine Audebert-Bellanger ◽  
Antoine Pouzet ◽  
Karine Bourdet ◽  
...  
2015 ◽  
Vol 100 (9) ◽  
pp. 821-825 ◽  
Author(s):  
Ninna Brix ◽  
Steen Rosthøj ◽  
Troels Herlin ◽  
Henrik Hasle

BackgroundAt disease onset, children with acute lymphoblastic leukaemia (ALL) may present with arthralgia or even signs of arthritis. This might cause misdiagnosis and thereby lead to prolonged diagnostic delay. The present study aimed to identify children with ALL with joint involvement and to compare their characteristics and outcome with children with ALL without joint involvement.MethodsCase records of 286 children diagnosed with ALL between 1992 and 2013 were reviewed and analysed in this retrospective, descriptive study.ResultsFifty-three (18.5%) children with ALL presented with localised joint pain, and half of them had objective signs of arthritis. The mean number of joints involved was 2.5, most frequently presenting as asymmetric oligoarthritis. The suspected misdiagnosis were reactive arthritis (19/53), osteomyelitis (9/53) and juvenile idiopathic arthritis (8/53). Children with joint involvement had less objective signs of haematological disease. Cytopenia was absent in 24% in children with joint involvement (vs 8% without, p=0.001), 50% had only one cell line affected (vs 21%, p=0.0005) and 44% had no organomegaly (vs 29%, p=0.05). Median diagnostic delay was 4 vs 2 weeks. The 5-year event-free and overall survival was superior for children with joint involvement: 94% vs 87% (p=0.049), and 96% vs 83% (p=0.044).ConclusionsALL with joint involvement is a frequent finding (18.5%). The clinical signs of leukaemia are less prominent, but non-articular pain should alert the clinician of a possible diagnosis of leukaemia. The overall and event-free survivals were superior compared with the children without joint involvement.


2010 ◽  
Vol 20 (2) ◽  
pp. 42-50 ◽  
Author(s):  
Laura W. Plexico ◽  
Julie E. Cleary ◽  
Ashlynn McAlpine ◽  
Allison M. Plumb

This descriptive study evaluates the speech disfluencies of 8 verbal children between 3 and 5 years of age with autism spectrum disorders (ASD). Speech samples were collected for each child during standardized interactions. Percentage and types of disfluencies observed during speech samples are discussed. Although they did not have a clinical diagnosis of stuttering, all of the young children with ASD in this study produced disfluencies. In addition to stuttering-like disfluencies and other typical disfluencies, the children with ASD also produced atypical disfluencies, which usually are not observed in children with typically developing speech or developmental stuttering. (Yairi & Ambrose, 2005).


2006 ◽  
Vol 5 (1) ◽  
pp. 158-159
Author(s):  
J GUILLAMONT ◽  
A SOLE ◽  
S GONZALEZ ◽  
A PEREZITURRIAGA ◽  
C DAVILA ◽  
...  

2006 ◽  
Author(s):  
Ilyssa E. Hollander ◽  
Nicole S. Bell ◽  
Margaret Phillips ◽  
Paul J. Amoroso ◽  
Les MacFarling

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