Research CHARGE DB-LINK, July 2009

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Research CHARGE DB-LINK, July 2009

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Research – CHARGE
DB-LINK, July 2009
1993-2189 A REAPPRAISAL OF THE CHARGE ASSOCIATION. Oley, C.A. Baraitser, M. Grant, D.B../ 1988,
Describes a study of 14 boys and six girls who have CHARGE Syndrome and explores the possible causes of the condition. Journal of Medical Genetics, 1988, pp. 146-156
1997-0078 CHARGE ASSOCIATION. : Clinical Manifestations and Developmental Outcome. Harvey, A. Simon Leaper,
Patricia M. Bankier, Agnes./ 1991, 8. Results of a follow-up report of 17 patients who have CHARGE association suggests that some infants with CHARGE association who survive early infancy have a better prognosis for feeding difficulties, growth, and mental development than may be expected from early performance and better than that generally predicted from the current literature. Early feeding problems are likely to improve, catch-up growth to the low normal range can occur, and early gross motor delay does not necessarily indicate a worse prognosis. The effects of visual and hearing deficits, their management, and the effects of physical illness are discussed with respect to developmental outcome. Importance of the prompt management of sensory deficits is emphasised. AMERICAN JOURNAL OF MEDICAL GENETICS, vol. 39, 1991, pp.48-55
2004-0111 GROWTH IN CHARGE ASSOCIATION. Blake, K Kirk, J.M.W../ 1993, 2.
This is a study that provides data on growth and development of 44 children with CHARGE Association aged 6 months to 18 years. Data shows the children had a normal birth weight and length, but a fall in percentile during infancy. Children remained small and there was a pubertal delay in boys. Close monitoring of growth and early detection and intervention is recommended. ARCHIVES OF DISEASE IN CHILDHOOD, vol. 68, 1993, pp. 508-509.
1999-0304 MAGNESIUM DEFICIENCY AS A CAUSE OF HYPOCALCEMIA IN THE CHARGE ASSOCIATION. :
Abstract and Author's Abstract. Shah, Binita R. Santucci, Karen Finberg, Laurence./ 1994, 1. The abstract and author's abstract of an article describing the testing and treatment of one patient with the CHARGE association and refractory hypocalcemia. It was found that magnesium deficiency was the cause of the hypocalcemia and this was corrected through seven weeks of magnesium and calcium supplements. ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE, vol.148, #5, May 1994, p.486(4)
1999-0021 EPIDEMIOLOGY OF CHOANAL ATRESIA WITH SPECIAL REFERENCE TO THE CHARGE
ASSOCIATION. Harris, John Robert, Elisabeth Kallen, Bengt./ 1997, 11. Presents and discusses characteristics of 444 infants with choanal atresia, a birth defect of the nasal cavity . Choanal atresia appears to be only minimally associated with a group of defects known as CHARGE consisting of coloboma, heart defect, choanal atresia, retarded growth development, genital anomaly, and ear defect. Choanal atresia occurs in 0.82 out of every 10,000 births. White infants and twins may be more likely to have choanal atresia. The defect affects both sides of the nasal cavity equivalently and affects as many males as females. Six percent of infants with choanal atresia also had genetic defects. PEDIATRICS, vol.99, #3, March 1997, p.363
1999-0324 VESTIBULAR ABNORMALITIES IN CHARGE ASSOCIATION. Murofushi, Toshihisa, MD Ouvrier, Robert
A., MD Parker, Geoffrey D., MB BS Graham, Robert I., MB BS Da Silva, Merl, MB BS Halmagyi, G. Michael, MD./ 1997, 6.
Reports the vestibular abnormalities in 5 patients with the CHARGE association from their clinicophysiological, developmental, and morphologic aspects and discusses their characteristics. This study confirms that absence of the bony semicircular canals in the presence of a bony cochlea is a characteristic finding in CHARGE

association. It also demonstrates that these disproportionate structural abnormalities are reflected in the functional abnormalities: absent vestibular function with preservation of some cochlear function. ANNALS OF OTOLOGY, RHINOLOGY & LARYNGOLOGY, vol.106, 1997, pp.129-134
1999-0323 CHARGE ASSOCIATION. : Histopathological Report of Two Cases and a Review. Hayashi, Nobutsugu, MD
Valdes-Dapena, Marie, MD Green, W. Richard, MD./ 1998, 7. Presents the detailed ocular histopathological findings after gross and microscopic studies were conducted on the eyes of two patients with the CHARGE association obtained postmortem. The abnormalities of these eyes were typical ocular colobomas presumably resulting from the failure of complete closure of the optic fissure. JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, vol.35, #2, March/April 1998, pp.100-106
2002-0326 CHARGE SYNDROME. : Association of Related Characteristics, A Review of a Specific Case, and Educational
Implications. Gloyn, Ann./ Canadian Conference on Deafblindness: 1998, 19. Copy of a paper presented at the 1998 Canadian Conference on Deafblindness. Contains an overview of the characteristics of CHARGE Syndrome and a review of the medical literature. Includes a case study of a young man with CHARGE syndrome who exhibited several difficult behaviors. Elimination of dairy products and other foods resolved or greatly reduced some behavioral issues. Other behaviors responded well to basic behavior management and redirection. Some repetitive and ritualistic behaviors seemed to have a neurological basis and responded to medication. The final section of the paper addresses the education implications of CHARGE Syndrome with an emphasis on an activity-based, reactive program that incorporates routine, choice and communication. The educational program must also provide intervention designed to allow the student to develop anger control and self-regulation.
1999-0462 VESTIBULAR FUNCTION IN CHILDREN WITH THE CHARGE ASSOCIATION. Wiener-Vacher, Sylvette,
M.D. Amanou, Laurent, M.D. Denise, Pierre, M.D. Narcy, Philippe, M.D. Manach, Yves, M.D../ 1999, 6. Reports on research to test residual vestibular function in patients with the CHARGE association. Results support the hypothesis of a residual functional otolith organ in the hypoplastic posterior labyrinth of children with the CHARGE association. Severe delays in psychomotor development presented by these children are more likely a consequence of multiple factors: canal vestibular deficit, visual impairment, and environmental conditions. The remaining sensitivity of the otolith system to gravity and linear acceleration forces in these children could be exploited in early education programs to improve their posturomotor development. ARCHIVES OF OTOLARYNGOLOGY -- HEAD NECK SURGERY, vol.125, #3, March 1999, pp.342-347
1999-0482 SEARCHING FOR COLOBOMA GENES. Schimmenti, Lisa M.D../ 1999, 3.
This article was developed to accompany a presentation by Dr. Schimmenti at the CHARGE Syndrome Foundation 4th International Conference. Dr. Schimmenti works in a lab that is investigating the genetic and developmental basis of colobomas and syndromes characterized by colobomas. The identification of the genetic basis of CHARGE is one of the main goals of the laboratory. Even though many children with a diagnosis of CHARGE syndrome have "normal" chromosome studies, the technical limits of chromosome studies do not permit identification of all chromosome changes. It is possible small chromosome deletions or rearrangements are present. This article discusses the lab's current work, some of the current hypothesis as to the cause of CHARGE and the potential benefits of identifying a genetic cause for individuals with CHARGE syndrome. Proceedings of the CHARGE Syndrome Foundation 4th International Conference Conference, Houston, TX, July 23-25, 1999.
2000-0381 THE CHARGE ASSOCIATION: THE ROLE OF TRACHEOTOMY. Gilles, Roger, MD Morisseau-Durand,
Marie-Paule, MD Abbeele, Thierry Van Den, MD Nicollas, Richard, MD Triglia, Jean-Michael, MD Narcy, Phillippe, MD Abadie, Veronique, MD Manac'h, Yves, MD Garabedian, Erea-Noel, MD./ 1999,
This is the report of a retrospective study, from 1988 through 1997, of forty-five patients with CHARGE Association. All of the patients underwent endoscopic exploration on several occasions. The study reviewed the nature and timing of therapeutic interventions performed on the airway. The purpose of the study was to

evaluate the need for a tracheotomy. This document is available on the web at: http://archotol.amaassn.org/issues/v125n1/full/ooa8219.html Archives Otolaryngology Head & Neck Surgery, Vol. 125, No. 1, January 1999, pp. 33-38.
2001-0527 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./ 2000, 5.
Recently, vestibular anomalies have been described as a frequent feature in children with coloboma-heartatresia-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. EUROPEAN JOURNAL OF PEDIATRICS,vol. 159, 2000, pp. 569-574.
2005-0451 CT DIAGNOSIS OF TEMPORAL BONE ANOMALIES AND COCHLEAR IMPLANT SURGERY IN
CHARGE ASSOCIATION. Stjernholm, Christina Muren, Catharina Bredberg, Goran./ 2001, Children with CHARGE Syndrome have multiple disabilities. Impairments of vision and hearing, balance problems, and facial palsy are common. This report describes the temporal bone findings (as seen with computed tomography) and surgical findings of one child with CHARGE and one with a CHARGE-like condition. Both received cochlear implants. The findings included absent semicircular canals, narrow orifice for the cochlear nerve, and abnormalities of the oval and round window, the facial canal, and the ossicles. Outcomes following implantation are also described. Both children had severe visual impairments. Programming of the implant was more difficult than usual because of the their decreased ability to receive visual stimuli and interpret auditory signals. Additionally, they were unable to express their reactions because their facial expression was poor and phonation not yet developed. One year after surgery it was found that the more severely affected child had definitely gained a new way of communication through the cochlear implant. He now reacts to auditory stimuli and enjoys music. He produces more sounds and can interact with sounds in a play situation. The second child also reacts to auditory stimuli when using the implant but prefers sign language and removes the device. COCHLEAR IMPLANTS INTERNATIONAL, vol. 2, #1, pp. 57-71
2002-0319 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: 2002, 7. 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. PEDIATRICS, vol. 110, #1, July 2002, pp. 119-126.
2002-0365 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./ 2002, 5. 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. ARCH OTOLARYNOGOL HEAD NECK SURGERY, vol. 128, September 2002, pp. 1013-1017.
2004-0015 CHARGE INTO THE ADOLESCENT AND ADULT DECADES. Abi Daoud, M. S. Gradstein, J. Blake, K. D../
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. PAEDIATRICS & CHILD HEALTH, VOL. 7, Suppl A, May/June 2002, p. 27A
2005-0360 COCHLEAR IMPLANTS IN CHILDREN WITH CRANIOFACIAL SYNDROMES. : Assessment and
Outcomes. MacArdle, B. M. Bailey, C. M. Phelps, P. D. Bradley, J. Brown, T. Wheeler, A../ 2002, This study reviewed the outcomes for four children with craniofacial syndromes who had received a cochlear implant. Two had CHARGE syndrome, one had Goldenhar Syndrome, and one had brachio-oculo-facial syndrome. One of the CHARGE children had bilateral coloboma with partial sight and the other had a right coloboma. The child with brachio-oculo-facial syndrome had a left choroidal coloboma. At follow-up, three of the children demonstrated benefit in detection, recognition, and identification of environmental sounds, and they continued to gain receptive spoken language skills, although none had intelligible speech. The group required careful mapping and higher levels of electrical stimulation of the implant compared to typical implantees. Stimulation of the facial nerve was a problem with one child. The pre-implantation assessment of these children requires extensive interdisciplinary discussion and careful radiological investigation. Cases should be carefully selected and parents should receive realistic counseling about outcomes and the time commitment necessary, as habilitation of these children can take twice as long as that of children without additional special needs. Postimplantation, these children continue to require well-coordinated medical and interdisciplinary management. INTERNATIONAL JOURNAL OF AUDIOLOGY, vol. 41, #6, PP. 347-356
2003-0395 INCIDENCE AND PREVALENCE OF CHARGE ASSOCIATION/SYNDROME IN CANADA. Smith, C.
Prasad Graham, JM Blake, KD./ IWK Health Centre: 2003, 1. This brief article describes a study to determine the true incidence of CHARGE Association/Syndrome and how to identify prognostic and etiologic factors. Describes a national survey of CHARGE patients in Canada from September 2001-2003. Provides results from the study including incidence rate in Canada, age of fathers, and age at diagnosis. This document is available on the web at: http://www.cps.ca/english/CPSP/Abstract/abstractCHARGEprevalence.htm
Abstract Presented at the 80th Annual Meeting of the Canadian Paediatric Society, Calgary, June 18 to 22, 2003.
2003-0477 EARLY PROGNOSTIC FACTORS FOR INTELLECTUAL OUTCOME IN CHARGE SYNDROME. Raobi,
F., M.D. Le Bihan, C., M.D. Morisseau-Durand, M.P., M.D. Dureau, P., M.D. Lyonnet, S., M.D., Ph.D. Abadie, V., M.D., Ph.D../ 2003, 5.
This study seeks to identify prognostic factors related to the intellectual outcome of children with CHARGE syndrome. Twenty-one children were observed from the neonatal period to the age of twelve years. Main psychomotor milestones and their present intellectual status were analyzed. The influence of 19 parameters recorded in their first months of life were determined to be predictive of intellectual outcome. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, #45, 2003, pp. 483-488.
2004-0292 TOWARD A GENETIC ETIOLOGY OF CHARGE SYNDROME. : I. A Systematic Scan for Submicroscopic
Deletions. Lalani, Seema R., et al./ 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. AMERICAN JOURNAL OF MEDICAL GENETICS, vol. 118A, #3, pp260-6
2004-0447 ASPECTS OF TEMPORAL BONE ANATOMY AND PATHOLOGY IN CONJUNCTION WITH
COCHLEAR IMPLANT SURGERY. Stjernholm, Christina./ 2003, This article describes a study of children with CHARGE and CHARGE-like condition with cochlear implants. It also describes two resulting papers, the first to identify temporal bone anomalies in CHARGE, and show results of cochlear implant surgery in CHARGE. The second paper establishes the normal variations of the cochlear nerve canal and suggests guidelines for evaluation of the cochlear nerve canal. The article includes results, discussion, and references. ACTA RADIOLOGICA SUPPLEMENTUM, vol. 44, #430, 2003, pp. 1-15.
2007-0290 DEVELOPMENTAL DELAY IN CHARGE SYNDROME. : A Four-Year Follow-Up. Salem-Hartshorne,
Nancy./ UMI Dissertation Services: 2003, 88. Describes an attempt to define the range of developmental ability and related factors in CHARGE as measure through an adaptive behavior scale, over time. Parents were surveyed twice over a four-year time span to obtain information about adaptive behavior and specific CHARGE characteristics. Results of this study suggest children with CHARGE who walk earlier may have better developmental outcomes than do those who walk later. Caution is warranted when predicting outcomes for infants with CHARGE. A dissertation submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy
2004-0308 CHALLENGING BEHAVIOR IN CHARGE SYNDROME. Hartshorne, Timothy S. Cypher, Abby D../ 2004,
The primary purpose of this study was to identify typical behaviors in children with CHARGE. One hundred parents completed a Web-based survey that listed 71 behaviors based on diagnostic categories that have been frequently reported anecdotally. Behaviors typical of autistic disorder, attention deficit/hyperactivity disorder, obsessive-compulsive disorder, Tourette syndrome, and deaf-blindness were characteristic of these children. Those who were deaf-blind received higher ratings on these challenging behaviors. MENTAL HEALTH ASPECTS OF DEVELOPMENTAL DISABILITIES, vol. 7, #2, pp.41-52
2004-0598 CHRACTERISTICS [SIC] AND DEVELOPMENT OF CHILDREN WITH CHARGE
ASSOCIATION/SYNDROME. Salem-Hartshorne, Nancy Jacob, Susan./ 2004, Parents of children with CHARGE were surveyed and asked to indicate whether their child had various features commonly found among individuals with CHARGE (e.g., vision or hearing impairment) and to complete an adaptive behavior scale for their child. One hundred parents completed surveys. Adaptive behavior scores revealed a broader and higher-reaching range of development for this population than previously reported, with about half achieving normal range scores. Correlation analyses revealed negative relationships between (a) degree of deaf-blindness, (b) age at walking, (c) degree of hearing impairment, and (d) medical involvement variables and the dependent variable, adaptive beharior. Age at walking had the strongest relationship to adaptive behavior scores. Implications for future research and practice are discussed. JOURNAL OF EARLY INTERVENTION, vol. 26, #4, pp.292-301
2005-0352 AUTISM WITH OPHTHALMOLOGIC MALFORMATIONS . : The Plot Thickens. Miller, Marilyn T. Stromland, Kerstin Ventura, Lianna Johansson, Maria Bandim, Jose M.
Gillberg, Christopher./ 2004, This article reviews the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Mobius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association; (2) a Swedish study of Goldenhar syndrome; and (3) a Brazilian Mobius syndrome. Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to thalidomide and misoprostol. Autism

also was present in patients with both CHARGE association and Goldenhar syndrome. In the Brazilian Mobius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. This document is available on the web at: http://www.aosonline.org/xactions/2004/1545-6110 v102 p107.pdf TRANSACTIONS OF THE AMERICAN OPHTHALMOLOGICAL SOCIETY, 102, pp.107-121
2005-0131 BEHAVIOR IN CHARGE SYNDROME. : Introduction to the special topic. Hartshorne, Timothy S. Hefner,
Margaret A. Davenport, Sandra L.H../ 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 WileyLiss, Inc. This document is available on the web at: http://www3.interscience.wiley.com/cgibin/fulltext/109863106/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 228-231
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./ 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 WileyLiss, Inc. This document is available on the web at: http://www3.interscience.wiley.com/cgibin/fulltext/109862084/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 331-339
2005-0135 CHARGE SYNDROME: 2005.. Carey JC../ 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.

This document is available on the web at: http://www3.interscience.wiley.com/cgibin/fulltext/109862076/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 227
2005-0136 ADAPTIVE BEHAVIOR IN CHILDREN WITH CHARGE SYNDROME. Salem-Hartshorne N. Jacob, S./ 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. This document is available on the web at: http://www3.interscience.wiley.com/cgi-bin/fulltext/109863381/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005
2005-0138 CAN SPECIFIC DEFICITS IN EXECUTIVE FUNCTIONING EXPLAIN THE BEHAVIORAL
CHARACTERISTICS OF CHARGE SYNDROME. : a case study. Nicholas J../ 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. This document is available on the web at: http://www3.interscience.wiley.com/cgi-bin/fulltext/109862192/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 300-305
2005-0139 AUTISTIC-LIKE BEHAVIOR IN CHARGE SYNDROME. Hartshorne TS. Grialou TL. Parker KR../ 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. This document is available on the web at: http://www3.interscience.wiley.com/cgibin/fulltext/109862195/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 257-261

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./ 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 ( 2005-0141 BEHAVIORAL FEATURES OF CHARGE SYNDROME: PARENTS' PERSPECTIVES OF THREE
CHILDREN WITH CHARGE SYNDROME. Lauger K. Keedy W. Cornelius N../ 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. This document is available on the web at: http://www3.interscience.wiley.com/cgi-bin/fulltext/109865431/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 391-399
2005-0144 FACTORS RELATED TO THE DEVELOPMENT OF COMMUNICATION IN CHARGE SYNDROME.
Thelin JW Fussner JC./ 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. This document is available on the web at: http://www3.interscience.wiley.com/cgi-bin/fulltext/109876138/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005
2005-0146

SCOLIOSIS IN CHARGE: A PROSPECTIVE SURVEY AND TWO CASE REPORTS. Doyle C Blake K./ 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. This document is available on the web at: http://www3.interscience.wiley.com/cgi-bin/fulltext/109884317/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 340-343
2005-0147 REPETITIVE BEHAVIORS IN CHARGE SYNDROME: DIFFERENTIAL DIAGNOSIS AND TREATMENT
OPTIONS. Bernstein V Denno LS./ 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. This document is available on the web at: http://www3.interscience.wiley.com/cgi-bin/fulltext/109884309/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 232-239
2005-0148 CHARGE SYNDROME: DEVELOPMENTAL AND BEHAVIORAL DATA. Souriau J Gimenes M Blouin C
Benbrik I Benbrik E Churakowskyi A Churakowskyi B./ 2005, Report on research conducted in France. 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. This document is available on the web at: http://www3.interscience.wiley.com/cgi-bin/fulltext/109884339/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 278-281
2005-0149 REDUCING CHALLENGING BEHAVIORS AND FOSTERING EFFICIENT LEARNING OF CHILDREN
WITH CHARGE SYNDROME. van Dijk JP de Kort A./ 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. This document is available on the web at: http://www3.interscience.wiley.com/cgi-bin/fulltext/109884338/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 273-277
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.-- 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. This document is available on the web at: http://www3.interscience.wiley.com/cgi-bin/fulltext/109884340/HTMLSTART American Journal of Medical Genetics, Vol 133A, Issue 3, March 15, 2005, 248-256
2005-0177 ADOLESCENT AND ADULT ISSUES IN CHARGE SYNDROME. Blake, Kim D. Salem-Hartshorne, Nancy
Daoud, Marie Abi Gradstein, Janneke./ 2005, Very little information has been published about adolescents and older individuals with CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies and deafness). This paper describes the results of a study that identified the unique issues faced by adolescents and adults with CHARGE. Descriptive information was gathered from parents of patients with CHARGE, and/or the patients themselves, about their developmental, medical, educational, and social history. The resulting body of information provides important insights into the prognosis and special needs of individuals with CHARGE, as well as further research questions. CLINICAL PEDIATRICS, vol. 44, #2, March 2005, pp. 151-159
2005-0362 AUTISM ASSOCIATED WITH CONDITIONS CHARACTERIZED BY DEVELOPMENTAL ERRORS IN
EARLY EMBRYOGENESIS. : A Mini Review. Miller, Marilyn T. Stromland, Kerstin Ventura, Liana Johansson, Maria Bandim, Jose M. Gillgerg, Christopher./ 2005,
Autism is a complex developmental disorder without an established single etiology. The purpose of this paper is to review the findings in five studies involving individuals manifesting the characteristic findings of autism spectrum disorder associated with malformations and dysfunctions known to result from early embryogenic defects. These investigations include two associated with teratogens (thalidomide embryopathy, Mobius sequence with misoprostol) and three (most Mobius sequence cases, CHARGE association, Goldenhar syndrome) with no known etiology. These studies suggest that early embryonic development errors often involving cranial nerve palsies, internal and external ear malformations, ophthalmologic anomalies, and a variety of systemic malformations may be associated with autism spectrum disorders statistically more frequently than expected in a normal population. INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, vol. 23, #2-3, Apr-May 2005, pp. 201-219
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