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CHARGE Articles, 2005 Bibliography

by American Journal of Medical Genetics on May 1, 2005
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The following articles were published in the American Journal of Medical Genetics, Vol. 133A, Issue 3, March 15, 2005. if you need further assistance contact us at info@nationaldb.org


2005-0136

Adaptive behavior in children with CHARGE syndrome --Salem-Hartshorne N.; Jacob, S. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005. (2005) The "R" in the mnemonic "CHARGE" has historically stood for "Retardation of Growth and Development." Early medical reports describing mental retardation in CHARGE syndrome have not used convincing means to assess this attribute. This article investigated the range of developmental ability in individuals with CHARGE as measured through an adaptive behavior scale, the Adaptive Behavior Evaluation Scale (ABES) [Carney (1995): The Adaptive Behavior Evaluation Scale home version technical manual-revised. 126p.], over time. Parents of individuals with CHARGE syndrome were surveyed twice over a 4-year time span (N=100, 85) to obtain information about adaptive behavior and specific CHARGE characteristics. There was a significant decline in ABES scores over the 4-year period. However, at Time two, one-half of the children achieved a standard score above 70. Correlation and regression analyses at Time one and Time two revealed negative relationships between (a) age at walking, (b) degree of hearing impairment, (c) degree of visual impairment, and (d) medical involvement variables and the dependent variable, adaptive behavior. In both studies, age at walking was the best predictor of scores. Analysis of variance confirmed that medical involvement and degree of vision impairment were related to adaptive behavior scores because they were also related to age at walking. Age at walking and medical involvement at Time one were found to be significantly different between those who improved and declined in adaptive behavior scores over time. Adaptive behavior scores from both studies revealed a much broader and higher-reaching range of ability for this population than has been previously reported in the literature. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109863381/HTMLSTART


2005-0139

Autistic-like behavior in CHARGE syndrome --Hartshorne TS.; Grialou TL.; Parker KR. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 257-261. (2005) Children with CHARGE syndrome frequently exhibit moderate to severe behavior difficulties, and are often diagnosed with obsessive-compulsive disorder, attention deficit disorder, Tourette syndrome, and autism. Hartshorne and Cypher (2004) surveyed parents of 100 children with CHARGE worldwide and confirmed the prevalence of behaviors that are associated with these disorders. They also found behaviors that could be described as typical of persons who are deafblind. The present study examined whether the autistic-like behaviors of children with CHARGE are more similar to those of children who are deafblind, to those of children who are autistic or are unique to CHARGE. Surveys including the Autism Behavior Checklist (ABC) were mailed to families of 204 children with CHARGE, and 160 usable surveys were returned (78%). Total scores on the ABC for children with CHARGE were significantly different from the norms for those with autism, and those who were deafblind. However, the variance for CHARGE was larger than for the normative groups, and 27.5% of those with CHARGE could be classified as autistic. The pattern of subscale scores for those with CHARGE differed from the other normative groups. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109862195/HTMLSTART


2005-0131

Behavior in CHARGE Syndrome : Introduction to the special topic --Hartshorne, Timothy S.; Hefner, Margaret A.; Davenport, Sandra L.H. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 228-231. (2005) CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109863106/HTMLSTART


2005-0134

Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome --Graham JM Jr.; Rosner B.; Dykens E.; Visootsak J. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 240-247. (2005) CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with hypoplasia of the cochlea and semicircular canals, genital hypoplasia, and variable heart defects, orofacial clefting, tracheo-esophageal fistula, renal anomalies, thymic/parathyroid hypoplasia, spine anomalies, short broad neck with sloping shoulders, and characteristic facial features. We conducted behavioral and personality assessments in 14 boys with HHS syndrome aged 6-21 years, and compared their characteristics with similar data from 20 age-matched boys with Down syndrome (DS), 17 boys with Prader-Willi syndrome (PWS), and 16 boys with Williams syndrome (WS). We used the Reiss Profile of Fundamental Goals and Motivation Sensitivities, the Achenbach Child Behavior Checklist (CBCL), and the Aberrant Behavior Checklist (ABC). All 14 boys with HHS were legally deaf, and 10 of the 14 were also legally blind. In comparison these other syndromes, boys with HHS had behavior that resembled autistic spectrum disorder. They were socially withdrawn, lacked interest in social contact, and manifested reduced seeking of attention from others, with hyperactivity and a need to maintain order. Though the boys with HHS showed decreased social interaction, they were not as socially impaired as in classic autism. Their language was delayed due to dual sensory impairment, cranial nerve deficits, and chronic medical problems, but their language style was not abnormal (no echolalia or jargon, no scripted phrases, and no pronoun reversal). Boys with HSS appeared frustrated, but they were not aggressive, or at risk for delinquency, manifesting few stereotypic behaviors or unusual preoccupations. They did not have a restricted repertoire of activities and interests. Their behavioral features appeared to be due to dual sensory impairment affecting hearing and vision, rather than to primary autistic spectrum disorder, but successful remediation requires similar educational interventions, which are discussed herein. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109863107/HTMLSTART


2005-0141

Behavioral features of CHARGE syndrome: parents' perspectives of three children with CHARGE syndrome --Lauger K.; Keedy W.; Cornelius N. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 391-399. (2005) As the population first diagnosed with CHARGE Syndrome has aged, information has emerged about specific behavioral features of this syndrome. Once the medical features are managed, it is the behavioral features that interfere with our children's ability to form reciprocal relationships, to gain formal communication skills, to make the educational gains they are cognitively capable of, and to ultimately care for themselves. In telling the informal case studies of our children, we hope their behavioral commonalities, in spite of their medical and educational differences, will be apparent as well as the complexity of the multiple types of behavior observed. We remain hopeful that answers can be found that will help our children and our families cope with this very debilitating feature of CHARGE. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109865431/HTMLSTART


2005-0150

Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data --Smith IM; Nichols SL; Issekutz K; Blake K. --Canadian Paediatric Surveillance Program. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 248-256. (2005) Individuals with CHARGE syndrome were identified through the Canadian Pediatric Surveillance Program (CPSP). From this population-based cohort (n=78), we present data on developmental and behavioral characteristics for the first 13 individuals (eight males, five females) for whom assessments are complete. Standardized parent questionnaires on development and behavior were followed by a structured telephone interview, with a specific emphasis on symptoms of autistic spectrum disorder (ASD). Preliminary results confirm that individuals with CHARGE syndrome have relatively low adaptive behavior skills, motor impairments being particularly significant. Most individuals did not present with significant behavior problems; however, evidence of ASD symptoms was judged to be moderate to strong in six of the ten children who were above the age of 4-5 years. Results are discussed with reference to the challenges inherent in the diagnosis of autism in individuals with sensory impairments, and to the implications for understanding the etiology of CHARGE syndrome and of ASD. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109884340/HTMLSTART


2005-0138

Can specific deficits in executive functioning explain the behavioral characteristics of CHARGE syndrome : a case study --Nicholas J. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 300-305. (2005) I present the case of a 12-year-old girl diagnosed with CHARGE syndrome. As an infant she had shown typical characteristics of CHARGE. Neuroimaging revealed asymmetrical ventriculomegaly. Both her teacher and parents reported academic and psychosocial problems. Neuropsychological assessment revealed significant executive dysfunction, including attention difficulties. We discuss the possible association between executive deficits and school and psychosocial problems. This case also highlights the importance of evaluating executive function in children with CHARGE, which is particularly useful in efficiently identifying needs for direct intervention. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109862192/HTMLSTART


2005-0132

CHARGE Association in Sweden : Malformations and functional deficits --Stromland K; Sjogreen L; Johansson M; Ekman Joelsson BM; Miller M; Danielsson S; Billstedt E; Jacobsson C; Norinder JA; Granstrom G; Gillberg C. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 331-339. (2005) CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109862084/HTMLSTART


2005-0135

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: http://www3.interscience.wiley.com/cgi-bin/fulltext/109862076/HTMLSTART


2005-0143

CHARGE syndrome "behaviors": challenges or adaptations? --Brown D. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 268-272. (2005) Sometimes behaviors reported as challenging are more often adaptive responses to severe levels of multi-sensory impairment. A therapy/educational response may be more productive. Multi sensory is more than deaf-blind. Issues related to balance, hearing, vision, and cranial nerve anomalies are discussed. These are followed by comments about sensory integration (SI) and communication. Finally there are examples of behaviors that were moved into “non-challenging” category by taking a multi-sensory perspective toward them. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109873240/HTMLSTART


2005-0148

CHARGE syndrome: developmental and behavioral data --Souriau J; Gimenes M; Blouin C; Benbrik I; Benbrik E; Churakowskyi A; Churakowskyi B. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 278-281. (2005) Report on research conducted in France:place>:country-region>. Focus on the behavioral and developmental issues related to CHARGE. A questionnaire to be completed by families was developed and completed by 71 families. Results are discussed. Although this is only preliminary research, it does offer a description of behaviors that can be observed in a significant number of children with CHARGE. Further research is needed. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109884339/HTMLSTART


2005-0133

CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years --Searle LC, Jr.; Graham JM; Prasad C; Blake KD. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 344-349. (2005) CHARGE syndrome was independently reported by Hall [(1979): J Pediatr 95:395-398] and Hittner et al. [(1979): J Pediatr Ophthalmol Strabismus 16:122-128] and was initially considered to be a non-random association between distinct multiple congenital anomalies. It is now considered to be a recognizable syndrome with well-characterized diagnostic criteria and a genetic pathogenesis. We report on a 33-year-old adult male with CHARGE syndrome, with emphasis on the unique medical, behavioral, and psychological issues faced in adulthood. Characteristic facial and ear abnormalities were obvious in early childhood, and bilateral retinal colobomata, left choanal atresia, right congenital hip dislocation, and hypogonadism were diagnosed during the first year. Walking was delayed due to vestibular problems, speech was impaired due to moderately severe hearing loss, and use of sign communication was limited. Choanal atresia was surgically corrected in infancy, and atrial septal defect, ventricular septal defect, and patent ductus arteriosus were surgically corrected in childhood. Undescended testes were removed in adolescence, and gallstones were removed in early adulthood. Puberty was delayed until hormone replacement therapy began at 15 years. Behavioral disturbances and anxiety persisted throughout childhood, adolescence, and into adulthood, often resulting from communication challenges. At 33 years of age, he lives independently in a supervised group home, receives regular eye check-ups and is being monitored for severely reduced bone density. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109863097/HTMLSTART


2005-0140

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:place>:country-region> 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 (http://www3.interscience.wiley.com/cgi-bin/fulltext/109862198/HTMLSTART


2005-0144

Factors related to the development of communication in CHARGE syndrome --Thelin JW; Fussner JC. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005. (2005) Parents of 28 children and a young adult with CHARGE syndrome participated in a survey on factors related to communication development. Information was obtained using a questionnaire and a follow-up interview. Parents were asked to (1) specify their child's primary mode of communication, (2) judge the significance of the effects of physical disorders, sensory deficits, and behavior on development and communication, (3) provide lists of their child's conditions and disorders, and (4) provide information about intervention related to communication and education. Thirty-nine percent of the participants (11/28) did not use symbolic language to communicate. The results suggest that factors affecting the majority of participants--physical disorders, vision loss, and hearing loss--may adversely affect communication ability. However, these factors did not preclude the development of symbolic language. Factors that were related to the development of symbolic language were success in the treatment of hearing loss with amplification, the ability to walk independently, and communication training initiated by 3 years of age. Other factors that may be related to the development of symbolic language are also discussed. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109876138/HTMLSTART


2005-0145

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: http://www3.interscience.wiley.com/cgi-bin/fulltext/109876535/HTMLSTART


2005-0149

Reducing challenging behaviors and fostering efficient learning of children with CHARGE syndrome --van Dijk JP; de Kort A. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 273-277. (2005) Letter. Describes a single-subject case study. Author states that if the challenging behaviors exhibited by individuals with CHARGE are to be effectively reduced, intervention must take into account and address the underlying causes and the consequences of the behaviors. Concludes that careful, detailed observation and assessment can elucidate many causes of these behaviors. Carefully, coordinated, consistent management plans to control the environment and alter reactions to behaviors can be a major step towards reducing the frequency and intensity of these disruptive behaviors. The result can create an environment more conducive to social interaction and learning for these children. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109884338/HTMLSTART


2005-0147

Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options --Bernstein V; Denno LS. American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 232-239. (2005) Twenty-nine students with CHARGE syndrome were evaluated using the Compulsive Behavior Checklist (CBC). Most of the students obtained a high score for repetitive behaviors, averaging 11.5 repetitive behaviors per student. Most students' repetitive behaviors significantly interfered with their daily routine. Thirty-four percent of the students responded to redirection with aggression toward themselves or others. Many of these behaviors do not respond well to traditional behavioral techniques. Through observation, definitions, and using functional analysis of behavior, repetitive behaviors were assigned to one of four categories. Each category has different treatment options. A case study of an adolescent girl with CHARGE syndrome who has profound deafness, colobomas, and moderate cognitive delay is presented. She displayed severe behavior challenges and significant medical issues. The course of treatment is outlined over 5 years. Behavior management, medical management, and psychiatric management were used in regulating her behavior, medical issues, and anxiety disorder. Close coordination between disciplines and excellent family involvement led to a very positive outcome. The student, now 19 years old, has made progress in her educational program and has been able to experience more community integration. Copyright (c) 2005 Wiley-Liss, Inc. Available on the web: http://www3.interscience.wiley.com/cgi-bin/fulltext/109884309/HTMLSTART


2005-0146

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: http://www3.interscience.wiley.com/cgi-bin/fulltext/109884317/HTMLSTART


2005-0137

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: http://www3.interscience.wiley.com/cgi-bin/fulltext/109862191/HTMLSTART


2005-0142

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:place>:country-region> 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: http://www3.interscience.wiley.com/cgi-bin/fulltext/109873251/HTMLSTART


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