Time filter

Source Type

Chicago Ridge, IL, United States

Burton B.K.,Birth Defects and Metabolism | Giugliani R.,Medical Genetics Service
European Journal of Pediatrics

Mucopolysaccharidosis II (MPS II), or Hunter syndrome, is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase. Affected patients suffer progressive damage to multiple organ systems and early mortality. Two thirds of patients also manifest cognitive impairment and developmental delays. MPS II can be extremely difficult to diagnose before irreversible organ and tissue damage has occurred because of an insidious onset and the overlap in signs and symptoms with common childhood complaints. This is particularly true of patients without cognitive impairment (attenuated phenotype). Although not curative, early treatment with enzyme replacement therapy before irreversible organ damage has occurred may result in the greatest clinical benefit. Here, the signs, symptoms, and surgical history that should trigger suspicion of MPS II are described, and the diagnostic process is reviewed with a focus on practical considerations and the avoidance of common diagnostic pitfalls. Once a diagnosis is made, multidisciplinary management with an extended team of pediatric specialists is essential and should involve the pediatrician or family practice physician as facilitator and medical home for the patient and family. Conclusion: Because routine newborn screening is not yet available for MPS II, the involvement and awareness of pediatricians, family practice physicians, and pediatric specialists is critical for early identification, diagnosis, and referral in order to help optimize patient outcomes. © Springer-Verlag 2011. Source

Charrow J.,Birth Defects and Metabolism | Charrow J.,Northwestern University | Scott C.R.,University of Washington
American Journal of Hematology

Following the treatment of the first Gaucher disease patient with enzyme replacement therapy (ERT), it was clear that ERT had the potential to be transformative with dramatic improvements in systemic manifestations of the disease within 2 years. Following over 20 years existence of the International Collaborative Gaucher Group Gaucher Registry and evidence from ~6000 patients, the long-term effects of therapy have been documented. It has been shown that ERT can result in improvements in all clinical and laboratory parameters of nonneuronopathic disease. However, different aspects of the disease, such as hematologic parameters, organ volumes and bone disease do not necessarily respond to therapy at the same rate or to the same extent, and this has had major implications for disease monitoring and for the establishment of therapeutic goals for ERT. Response may be affected by factors such as the timing of therapy initiation, the presence of irreversible complications such as osteonecrosis, and by enzyme dose. It is also apparent that ERT has no impact on neurological aspects of disease and highlights the need for additional or alternative treatment strategies able to meet the needs of patients with neuronopathic disease. © 2015 Wiley Periodicals, Inc. Source

Wegrzyn G.,University of Gdansk | Burton B.K.,Birth Defects and Metabolism | Tylki-Szymanska A.,Childrens Memorial Health Institute
Acta Paediatrica, International Journal of Paediatrics

Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments. Conclusion Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III. © 2013 Foundation Acta Pædiatrica. Source

Hart A.,Rush University Medical Center | Petros M.,University of Illinois at Chicago | Charrow J.,Birth Defects and Metabolism | Nash C.,University of Illinois at Springfield | Wicklund C.,Northwestern University
Journal of Genetic Counseling

Storage and use of residual dried blood spots (DBS) from newborn screening (NBS) for research purposes has been a topic of elevated interest following high profile disputes between genetic privacy advocacy groups and state NBS programs. Our objective was to assess public opinion in Illinois regarding storage and use of residual DBS for research. Five hundred twenty-six Illinois residents completed a survey assessing attitudes about research uses for DBS, storage length, and consent issues. Over 80 % of respondents expressed agreement with questions regarding research uses of DBS. Eighty-three percent of respondents were in favor of storage for at least one year with 44 % favoring indefinite storage. Respondents with higher educational attainment were more likely to support research use of DBS and less likely to desire contact for each future study (P < 0.05). Black respondents were less likely than white respondents to express agreement for the use of DBS for research or to favor long-term storage (P < 0.05). Support was high for storage and use of DBS in our sample. Consent was important and respondents wanted choices about participation. Forty-two percent of respondents were not aware of NBS prior to this survey, highlighting a need for greater education about this public health program. Trust in the public health service of NBS must be protected through transparency in the policy process. © 2014, National Society of Genetic Counselors, Inc. Source

Schrier S.A.,Childrens Hospital of Philadelphia | Bodurtha J.N.,Johns Hopkins University | Burton B.,Birth Defects and Metabolism | Chudley A.E.,University of Manitoba | And 8 more authors.
American Journal of Medical Genetics, Part A

Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. In an effort to further delineate the spectrum and key phenotypic features, we reviewed 80 previously reported cases to define features in patients that most closely correlated with a convincing diagnosis. There appear to be two subtypes of CSS, one which displays the classic coarse facial features previously described; another displays variant facial features which are less striking. Using these features, we defined an algorithm to rank the confidence of diagnosis and applied it to 15 additional patients who had been previously characterized by chromosome microarray. This approach will also facilitate uniform categorization for whole-exome analysis. © 2012 Wiley Periodicals, Inc. Source

Discover hidden collaborations