CHARGE Syndrome - Medical Information Bibliography

by DB-LINK on May 1, 2011
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This is a partial list of materials on this topic available from the DB-LINK Catalog Database.  If you have additional questions, please contact us via email:


CHARGE Association : Symptoms, Behaviour and Intervention --Lewis, Chris; Lowther, Juliet. EDUCATIONAL PSYCHOLOGY IN PRACTICE, vol. 17, #1, 2001, pp. 69-77. (2001) This paper reviews current knowledge on CHARGE Association. It considers aspects related to social behavior and factors to be considered when planning educational interventions with this low incidence group of children who have more significant additional needs. The purpose of this paper is to describe the main features of CHARGE syndrome, to note the incidence, and look at its impact upon learning and behavior, and to consider the implications for intervention.


Charge Into the Adolescent and Adult Decades --Abi Daoud, M. S.; Gradstein, J.; Blake, K. D. PAEDIATRICS & CHILD HEALTH, VOL. 7, Suppl A, May/June 2002, p. 27A. (2002) This is an abstract from a poster session presented at the Canadian Paediatric Society's 79th Annual Meeting, June 12 to 16, 2002, Toronto, Ontario. It describes the results of a study to gather preliminary, descriptive information on the developmental, medical, educational, and social history of CHARGE Association Syndrome in adolescents and adults. Specific medical issues identified included scoliosis, sleep apnea, retinal detachment/cataracts, and migraines. Other problems identified were obsessive-compulsive disorder, behavioral problems of aggressiveness/outbursts, self-abusive episodes, and sleep problems.


CHARGE Syndrome : Genetics, VCF, FISH and Recurrence --Hefner, Meg, M.S. CHARGE ACCOUNTS, vol. 10, #4, Winter 2000, pp. 7-9. (2000) This is an article comparing the diagnoses of CHARGE Syndrome with VCF (VeloCardialFacial) Syndrome. It describes the similarities and differences between the two syndromes, the diagnoses and current research on both syndromes using the Human Genome project data.


CHARGE Syndrome : A Window of Opportunity for Audiologic Intervention --Edwards, Bruce M., MA; Kileny, Paul R., Ph.D.; Van Riper, Lori A., MS. American Academy of Pediatrics. PEDIATRICS, vol. 110, #1, July 2002, pp. 119-126. (2002) This research focuses on 22 new patients with CHARGE syndrome. It compares their auditory brainstem response (ABR) thresholds and behavioral hearing test results. It attempts to identify a window of opportunity for audiologic intervention, and reviews literature regarding hearing results in CHARGE syndrome, and reviews the relationship between facial palsy and sensorineural hearing loss.


CHARGE Syndrome : The Phenotypic Spectrum of Mutation in the CHD7 Gene --Jongmans, M. C. J., et al. JOURNAL OF MEDICAL GENETICS, vol. 43, pp. 306-314. (2006) This highly technical article describes the results of a study that identified the characteristics of 47 individuals with CHARGE syndrome who were diagnosed based on identification of the CHD7 genetic mutation. Wide variability in clinical characteristics was found.


CHARGE syndrome: 2005. --Carey JC. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 227. (2005) Editorial.The discovery in 2004 of mutations in the gene, CDH7 in 10 of 17 individuals with CHARGE establishes it as a syndrome. This makes the timing of this special issue on CHARGE even more important. These articles are particularly unique for this journal in their detailed coverage of the behavior phenotype but this is an important theme for medical geneticists involved in the management of individuals with this syndrome. Available on the web.


The Clinical Spectrum of Individuals with CHARGE Syndrome Due to a Mutation in CHD7 --Jongmans, Marjolijn; van Ravenswaaij, Conny. Miami Beach, FL: 7th International CHARGE Syndrome Conference, July 22nd - July 24th, 2005, Miami Beach, Florida. (2005) A one page description of the research on CHD7 gene in the Netherlands. In outline format lists the clinical features of CHARGE, DNA results, clinical study results and conclusions.


Cochlear Implantation in Children With CHARGE Association --Bauer, Paul W., MD; Wippold, Franz J. II, MD; Goldin, Jenifer, MS, CCC-A; Lusk, Rodney P., MD. ARCH OTOLARYNOGOL HEAD NECK SURGERY, vol. 128, September 2002, pp. 1013-1017. (2002) This study explores the anomalies of the temporal bone found on radiologic examination, technical challenges in cochlear implantation, and the audiologic benefit derived from cochlear implantation in children with CHARGE Association. Conclusions found that individual outcomes after implantation may vary, parents should be counseled thoroughly and have appropriate expectations before proceeding with implantation.


Detection of CHD7 Mutations in Children with CHARGE Syndrome --Lalani, Seema R.; Fernbach, Susan D.; Belmont, John W. Miami Beach, FL: 7th International CHARGE Syndrome Conference, July 22nd - July 24th, 2005, Miami Beach, Florida. (2005) Short presentation of the results of the research conducted at Baylor College of Medicine. hey have found disease causing mutations in CHD7 gene in about 55% of the 114 DNA samples tested from children enrolled in the study. The article offers a brief overview of the genetics of CHARGE, the results of the Baylor study, function of the CHD7 gene and the importance of mutation testing.


An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study --Issekutz KA; Graham JM Jr; Prasad C; Smith IM; Blake KD. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 309-317. (2005) CHARGE syndrome is a well-characterized clinical diagnosis with recent data supporting a genetic etiology. A 3-year national surveillance coordinated by the Canadian Pediatric Surveillance Program (CPSP) was started in September 2001. Physicians notified the CPSP if they had cared for individuals with CHARGE syndrome within their practice, and then completed a detailed reporting form. To date, there are 77 confirmed cases of CHARGE syndrome. The highest provincial prevalence of CHARGE syndrome in Canada was estimated at 1 in 8,500 live births. Subgroups of cases with particular clusters of anomalies were identified. In older individuals, bilateral posterior choanal atresia (BPCA) was predictive of the presence of the three other major criteria and of aortic arch anomalies. Individuals with CHARGE syndrome who demonstrated a less extensive phenotype (Available on the web.


The Epidemiology and Clinical Features of the CHARGE Association in Australian Children 2000-2002 --Williams, George. Miami Beach, FL: 7th International CHARGE Syndrome Conference, July 22nd - July 24th, 2005, Miami Beach, Florida. (2005) Article describes the results of a study to estimate the incidence of CHARGE Association seen by child care specialists in Australia; to describe the epidemiology; to describe the clinical features; to document the morbidity and mortality. The authors conclude that the complex diagnostic issues and multi-system involvement in CHARGE Association require genetic review and a multidisciplinary team management approach.


Finding the Genetic Cause of CHARGE Syndrome --Lalani, Seema, M.D. Cleveland, OH: Proceedings of the 6th International CHARGE Syndrome Conference, July 25-27th, 2003, Cleveland, OH. (2003) This presentation describes the progress and remaining unknown information about the genetic causes of CHARGE syndrome. Describes a study where a large part of the genome for microdeletion(s) in children with CHARGE syndrome was excluded. Also describes a study of a patient with CHARGE syndrome who has a chromosomal abnormality which has led to identifying a gene that may be related to the cause. Also available is a CD-ROM containing an audio version of this presentation.


Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association --Arrington CB; Cowley BC; Nightingale DR; Zhou H; Brothman AR; Viskochil DH. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 326-330. (2005) Specific genetic loci responsible for CHARGE association are currently unknown. Herein, we describe a neonate with clinical manifestations consistent with CHARGE association who has a de novo interstitial deletion involving bands 8q11.2 to 8q13. Genetic mapping and genomic microarray technology have been used to more accurately define the breakpoints of this deletion. Within the deleted region, there are approximately 150 expressed genes, one or more of which may contribute to the manifestations of CHARGE association. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web.


Medical & Development Issues in CHARGE Syndrome --Davenport, Sandra L.H. Austin, TX: Texas Deafblind Project. 2005 Texas Symposium on Deafblindness. (2005) This article contains brief descriptions of medical management issues including: swallowing problems, gastroesophageal reflux, compromised airway, recurrent otitis media, middle ear bone malformations, sinusitis, scolliosis, detached retinas, short stature, disturbed sleep cycles and chronic constipation. Development issues are also briefly described and include input impairment, output impairment, intelligence and psychological assessment, and behavior issues.


Osteoporosis in Adolescents and Adults with CHARGE Syndrome --Blake, Kim. Miami Beach, FL: 7th International CHARGE Syndrome Conference, July 22nd - July 24th, 2005, Miami Beach, Florida. (2005) Copy of a PowerPoint presentation that offers general information about osteoporosis, research study and prevention and treatment. The results showed that approximately 50% of the participants with CHARGE do not consume the recommended daily amount (RDA) for calcium and the majority do not consume the RDA for vitamin D. Teens aged 13-18 are significantly less active than controls. In addition to diet and exercise, treatment may include hormone replacement therapy.


Puberty in Adolescents with CHARGE Syndrome --Blake, Kim, M.D.; Ur, Ehub, M.D. Cleveland, OH: Proceedings of the 6th International CHARGE Syndrome Conference, July 25-27th, 2003, Cleveland, OH. (2003) This presentation describes puberty and development in children with CHARGE Syndrome. Answers questions about the onset of puberty in adolescents with CHARGE, how puberty progresses in children with CHARGE Syndrome, and if Hormone Replacement Therapy (HRT) is necessary and whether or not it is being used. Also available is a CD-ROM containing an audio version of this presentation.


Scoliosis in CHARGE: a prospective survey and two case reports --Doyle C; Blake K. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 340-343. (2005) CHARGE syndrome was first identified as a cluster of congenital anomalies in 1979 and has since undergone diagnostic criteria modifications to include the major and minor characteristics that occur during infancy and childhood. As the individuals with CHARGE syndrome have aged into their adolescents and adulthood, it has become increasingly common for them to develop scoliosis. This article presents an older population of individuals with CHARGE syndrome and describes the prevalence of scoliosis, and identifiable risk factors for scoliosis. Two case reports demonstrate the variability of scoliosis in CHARGE syndrome. A survey of adults and adolescents with CHARGE syndrome was completed to collect information about late onset medical issues, and those identifying scoliosis as an issue, were further followed for more information. The total population (n=31) and then the subgroup of individuals with scoliosis (n=19) were analyzed. Sixty one percent (19 of 31) of this population was diagnosed with scoliosis. The age of CHARGE syndrome diagnosis was later in the scoliosis population (6.3 years compared to 3.7 years in the no scoliosis population). Growth hormone use was reported in 7 of 31 of the individuals; 6 of these subsequently were diagnosed with scoliosis (32% of the scoliosis group). Of the scoliosis subgroup, most were mild scoliosis but eight were diagnosed with moderate to severe scoliosis, and all of these were treated with either a brace (n=5) or with surgical fusion (n=2) and one individual had both. Scoliosis in CHARGE syndrome individuals is more common than previously reported, and the age of onset is earlier than when routine monitoring for scoliosis is recommended. The prevalence of scoliosis in the CHARGE syndrome population is higher than in the general population therefore, it is very important for physicians to carefully monitor the spine for the development of scoliosis in children with CHARGE syndrome, especially if they are being treated with growth hormone. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web.


Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation --Lalani, Seema R., et al. AMERICAN JOURNAL OF HUMAN GENETICS, vol. 78, pp. 303-314. (2006) Recently, mutations of the CHD7 gene were reported to be a major cause of CHARGE syndrome. This highly technical article describes a study in which researchers sequenced the CHD7 gene in 110 individuals with CHARGE syndrome and detected mutations in 64 (58%). The study concluded that cardiovascular problems, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by the CHD7 mutation.


Speculations on the pathogenesis of CHARGE syndrome --Williams MS. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 318-325. (2005) To be seriously considered, a theory about the pathogenesis of a multiple congenital anomaly syndrome should meet three criteria: (1) it should explain all of the anomalies associated with the syndrome; (2) it should explain why certain anomalies are not associated with the syndrome; and (3) it should predict anomalies that could be associated with the syndrome, but have not yet been described. The theory must eventually pass the ultimate test, that is, molecular confirmation of the proposed mechanism. Several theories about the pathogenesis of CHARGE syndrome have been proposed, but none of these meet the three criteria stated above. In this study, the author proposes that CHARGE syndrome is due to a disruption of mesenchymal-epithelial interaction (epithelial includes ectoderm and endoderm). The theory is tested against the major, minor, and occasional anomalies that are used to make the clinical diagnosis of CHARGE syndrome. Review of the known embryology of the organs and tissues involved in CHARGE syndrome confirms that mesenchymal-epithelial interactions are necessary for proper formation of these organs and tissues. The presence of limb anomalies in approximately one-third of CHARGE syndrome patients fulfills criteria #3 above, in that limb anomalies were not felt to be a part of CHARGE syndrome until relatively recently. It is known that some patients with chromosomal abnormalities have a phenotype that overlaps with CHARGE syndrome. Given that critical developmental pathways must be robust and redundant in order to minimize errors, it may be that disruption of more than one gene is necessary to generate the CHARGE phenotype, as has been proposed for the holoprosencephaly sequence. Mutations and deletions of CHD7 have recently been identified as causing CHARGE syndrome in more than 50% of tested patients. Given this gene classes' putative role as a general controller of developmental gene expression as well as mesodermal patterning, it would fit the hypothesized mechanisms discussed in the study. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web.


Toward a Genetic Etiology of CHARGE Syndrome : I. A Systematic Scan for Submicroscopic Deletions --Lalani, Seema R., et al. AMERICAN JOURNAL OF MEDICAL GENETICS, vol. 118A, #3, pp260-6. (2003) CHARGE syndrome is a distinctive subgroup within the more heterogeneous group of patients with CHARGE association. While significant progress has been made in the clinical delineation of this syndrome, the molecular basis of the disorder remains unknown. Based on the complex phenotype, some overlap with DiGeorge/velocardiofacial syndrome (DGS/VCFS), and its estimated population incidence, we hypothesized that CHARGE syndrome could be caused by an unidentified genomic microdeletion. In order to address this hypothesis, we carried out a genome-wide screen for loss of expected heterozygosity using 811 microsatellite markers in ten CHARGE syndrome subjects and their unaffected parents. Eight markers gave results suggestive of failure to inherit one parental allele. These loci were tested with fluorescence in situ hybridization (FISH), but none showed evidence of deletion. This screen sets upper limits on the length of a CHARGE-related microdeletion, should that be the genetic mechanism underlying the phenotype. DB-LINK does not carry this journal.


Understanding Balance Problems in Children with CHARGE Syndrome --Williams, George; Hartshorne, Timothy. OR: Deaf-Blind Perspectives, vol. 12, #2, Winter 2005, pp. 5-7. (2005) Balance problems are common in children with CHARGE Syndrome as a result of damaged or missing vestibular organs. This creates problems not only with balance, but with the attainment of gross and fine motor skills, the coordination of eye movements, and possibly overall development and learning. The early warning signs of vestibular problems are discussed as are assessment and activities to enhance vestibular function. Available on the web:


Updated diagnostic criteria for CHARGE syndrome: a proposal --Verloes A. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 306-308. (2005) Invited comment from a clinical geneticist from France about the diagnostic criteria for CHARGE. Proposes change from association to syndrome because although the cause is not yet known, CHARGE is much more a syndrome than an association, i.e., a nonrandom cluster of developmental anomalies. Semicircular canals problems are common in CHARGE and may cause severe vestibular problems so these should be added to the diagnostic criteria. There is a variability in expression of CHARGE and as yet, no formal definition of partial or atypical CHARGE. An updated definition of CHARGE is needed and must reinforce the weight of the very specific embryological defects. A proposed updated diagnostic criteria is offered. Available on the web.


Vestibular Anomalies in CHARGE Syndrome : Investigations On and Consequences for Postural Development --Abadie, Veronique; Wiener-Vacher, Sylvette; Morisseau-Durand, Marie-Paule; Poree, Claude; Amiel, Jeanne; Amanou, Laurent; Peigne, Catherine; Lyonnet, Stanislas; Manac'h, Yves. Paris: EUROPEAN JOURNAL OF PEDIATRICS,vol. 159, 2000, pp. 569-574. (2000) Recently, vestibular anomalies have been described as a frequent feature in children with coloboma-heart-atresia-retarded-genital-ear (CHARGE) syndrome. They are likely to play an important role in the psychomotor retardation affecting these children. This study tests this hypothesis by performing complete vestibular investigations in a series of 17 CHARGE syndrome including inner ear CT scan and functional vestibular evaluation of both canal and otolith functions. These results were correlated with the postural anomalies observed during the children's development and showed that vestibular dysfunction is a constant feature in CHARGE syndrome and has very good sensitivity for confirming the diagnosis. The study, its methods, results, conclusions, and a discussion of the conclusions are provided in detail.

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