CHARGE Research Bibliography

by on May 1, 2013
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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:

2014-0011 ACC Intervention Using a VOCA for Deaf Children With Multiple Disabilities Who Received Cochlear Implantation --Lee, Youngmee; Jeong, Sung-Wook; Kim, Lee Suk. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, vol. 77, # 12, December 2013, pp. 2008-2013. (December 2013)

The aim of this study was to examine the efficacy of a new habilitation approach, augmentative and alternative communication (AAC) intervention using a voice output communication aid (VOCA), in improving speech perception, speech production, receptive vocabulary skills, and communicative behaviors in children with cochlear implants (CIs) who had multiple disabilities.

Five children with mental retardation and/or cerebral palsy who had used CIs over two years were included in this study. Five children in the control group were matched to children who had AAC intervention on the basis of the type/severity of their additional disabilities and chronological age. They had limited oral communication skills after cochlear implantation because of their limited cognition and oromotor function. The children attended the AAC intervention with parents once a week for 6 months. We evaluated their performance using formal tests, including the monosyllabic word tests, the articulation test, and the receptive vocabulary test. We also assessed parent-child interactions. We analyzed the data using a one-group pretest and posttest design.

The mean scores of the formal tests performed in these children improved from 26% to 48% in the phoneme scores of the monosyllabic word tests, from 17% to 35% in the articulation test, and from 11 to 18.4 in the receptive vocabulary test after AAC intervention (all p<.05). Some children in the control group showed improvement in the speech perception, speech production, and receptive vocabulary tests for 6 months, but the differences did not achieve statistical significance (all p>.05). The frequency of spontaneous communicative behaviors (i.e., vocalization, gestures, and words) and imitative words significantly increased after AAC intervention (p<.05).

AAC intervention using a VOCA was very useful and effective on improving communicative skills in children with multiple disabilities who had very limited oral communication skills after cochlear implantation.

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. Available on the web:

2005-0177 Adolescent and Adult Issues in CHARGE Syndrome --Blake, Kim D.; Salem-Hartshorne, Nancy; Daoud, Marie Abi; Gradstein, Janneke. CLINICAL PEDIATRICS, vol. 44, #2, March 2005, pp. 151-159. (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.

2008-0127 Attachment, Bonding, and Parental Stress in CHARGE Syndrome --Reda, Nicole M.; Hartshorne, Timothy S. MENTAL HEALTH ASPECTS OF DEVELOPMENTAL DISABILITIES, vol. 11, #1, January/February 2008, pp. 10-21. (2008) Parents of 25 children with CHARGE syndrome, ages 12 to 50 months, completed measures of child attachment, parental bonding, and family stress. Twelve children were classified as securely and 13 as insecurely attached. The time it took to appear attached and parents to feel bonded were related, as were length of time to appear attached and strength of parental bonding. Visual impairment was related to insecure attachment as well as parenting stress. Twelve parents had scores indicating significant stress. Parent stress was related to problems with bonding, and having a challenging child was related to insecure attachment. Being able to hold the child and a shorter stay in the hospital after birth were related to more secure attachment. Of the 25 children, 88 percent had colobomas and 84% had hearing loss. Only three children, however, were classified as deaf-blind.

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:

2014-0013 Autism Spectrum Disorders in 24 Children who are Deaf or Hard of Hearing --Meinzen-Derr, Jareen; Wiley, Susan; Bishop, Somer; Manning-Courtney, Patricia; Choo, Daniel I.; Murray, Donna. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, vol. 78, #1, January 2014, pp. 112-118. (January 2014) OBJECTIVES:

Approximately 4% of children who are deaf or hard of hearing have co-occurring autism spectrum disorder (ASD). Making an additional diagnosis of ASD in this population can be challenging, given the complexities of determining whether speech/language and social delays can be accounted for by their hearing loss, or whether these delays might be indicative of a comorbid ASD diagnosis. This exploratory study described a population of 24 children with the dual diagnosis of ASD and hearing loss.

Children completed a comprehensive ASD evaluation using standardized autism diagnostic instruments (Autism Diagnostic Observation Schedule, language and psychological testing). Children with permanent hearing loss who had a developmental evaluation between 2001 and 2011 and were diagnosed with an ASD based on the results of that evaluation were included. Information on communication modality, language and cognitive abilities was collected.

The median age of diagnosis was 14 months (range 1-71) for hearing loss and 66.5 months (range 33-106) for ASD. Only 25% (n=6) children were diagnosed with ASD =48 months of age and 46% by =6 years. Twelve (50%) children were diagnosed with ASD, 11 were diagnosed with pervasive developmental disorder not otherwise specified and 1 child had Asperger's. Most (67%) had profound degree of hearing loss. Fourteen (58%) children had received a cochlear implant, while 3 children had no amplification for hearing loss. Nine (38%) of the 24 children used speech as their mode of communication (oral communicators).

Communication delays in children who are deaf or hard of hearing are a serious matter and should not be assumed to be a direct consequence of the hearing loss. Children who received cochlear implants completed a multidisciplinary evaluation including a developmental pediatrician, which may have provided closer monitoring of speech and language progression and subsequently an earlier ASD diagnosis. Because children who are deaf or hard of hearing with ASD are challenging to evaluate, they may receive a diagnosis of ASD at older ages.

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:

2008-0330 Behavioural Phenotypes in CHARGE Syndrome: A Study of Behavioural Aspects in People with CHARGE Syndrome --Hoevenaars-van den Boom, Marcella, A.A.; Vervload, Mathijs P.J.; Admiraal, Ronadl J. C. 14th DbI World Conference on Deafblindness Conference Proceedings, September 25-30, 2007, Perth, Australia. (2007) This is text of a workshop presentation given at the 14th DbI World Conference on Deaf-Blindness. This presentation describes the aim of a study of the existence of a pattern of behavioural characteristics in people with CHARGE syndrome.

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:

2011-0214 Challenges Faced in the Management of Cochlear Implanted Children with Severe Learning Difficulties --Speers, Amanda; Jeffers, Elaine; McCreedy, V.; Toner, Joseph G.; McAnallen, Cecilia. COCHLEAR IMPLANTS INTERNATIONAL, vol. 11, #2, September 2010, pp.74-79. (2010) This study discussed the challenges faced by a multi-disciplinary cochlear implant team responsible for the management of 4 children with severe learning difficulties following cochlear implantation. The children had the following conditions: (1) Down Syndrome and auditory neuropathy; (2) pre-term and autism spectrum disorder (ASD); (3) Connexin 26 and Down Syndrome; and (4) ASD and enlarged vestibular aqueducts. None are described as having a visual impairment. Objective rating scales were used to measure the children's speech perception and intelligibility and a parental questionnaire was used to address various issues relating to the cochlear implant and its impact on family life. The children made progress with speech intelligibility and speech perception over the 3 years following implantation, but their progress was slow and they were still reliant on sign language to help their understanding and express their needs. The findings of the parental questionnaire indicated that, in general, parents were positive about implantation.

2007-0023 CHARGE Syndrome : Relations Between Behavioral Characteristics and Medical Conditions --Vervloed, Mathijs; Hoevenaars-van den Boom, Marella; Knoors, Harry; van Ravenswaaij, Conny; Admiraal, Ronald. American Journal of Medical Genetics, 2006, 140A:851-862. (2006) The behaviors and medical problems in 27 persons with CHARGE syndrome were studied, because it was hypothesized that their behavior might be partly dependent on the heterogeneous medical status. With the exception of more tics, cardiac surgery was associated with positive behaviors: less withdrawn behavior, better mood, and a more easy temperament. Tube feeding was also related to positive behavior, since participants with a history of tube feeding showed less intense behavior. Cerebral deficits were associated with three problem behaviors: more intense and withdrawn behavior and a worse mood. Deafblindness was associated with developmental delays in expressive and overall communication level, and recurrent middle ear infections correlated with delays in written language. Of all medical conditions, only the presence or absence of heart defects and cardiac surgery could differentiate between the participants with regard to the number of behavioral problems. Participants with heart surgery especially, had less behavior problems. The number of operations and hospitalizations was not associated with behavior, but the total length of the hospitalizations was. Long hospital stays were associated with less problem behavior, especially internalizing behaviors. Cerebral and heart problems did not result in longer hospital stays, whereas esophageal reflux did. Age effects were reflected in older participants, who showed more internalizing problems. Heart surgery and hospitalization may be protective factors, but the protection might not be the actual surgery or hospital stay, as there may be other variables that are the actual cause, such as reduced vitality or altered parent child interactions after heart surgery. The study could not confirm a significant association between medical conditions and autism found in previous studies. © 2006 Wiley-Liss, Inc. Publisher's web site:

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. 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:

2007-0068 Charge Syndrome: Dual Sensory Impairment, Cognitive Development and Anxiety --Reau, Charlotte; Blouin, Corinne; Tap, Christine. DBI REVIEW, #33, January-June 2006, pp. 24-25. (2006) The three authors are psychologists working in France. Christine is also Headteacher of CESSA, a school for deafblind children. This is the second article of a series of three which discuss methodology, cognitive development and the first clinical observations about anxiety. This is the second article and focuses on the first cognitive results.

2008-0027 CHARGE Syndrome: Dual Sensory Impairment, Cognitive Development and Anxiety --Tap, Christine. DBI REVIEW, #39, January-June 2007, pp. 34-35. (2007) Psychologists, Charlotte Reau, Corinne Blouin and Christine Tap conclude their series of three articles on their research with children with CHARGE. In this technical article they report their first clinical observations.

2008-0086 Charge Syndrome: Dual Sensory Impairment, Cognitive Development and Anxiety --Reau, Charlotte; Blouin, Corinne; Tap, Christine. DBI REVIEW, #39, January-June 2007, pp. 34-35. (2007) The three authors are psychologists working in France. Christine is also Headteacher of CESSA, a school for deafblind children. This is the third article of a series of three which discuss methodology, cognitive development and the first clinical observations about anxiety. In this article they discuss their clinical observations which are centered around the expression of language, the nature of anguish in their expression, the loss of objects and tactile sensitivity in place of spoken language.

2014-0029 Children With Complex Needs and Cochlear Impants : The Parent's Perspective --Mulla, Imran; Harrigan, Suzanne; Gregory, Sue; Archbold, Sue. COCHLEAR IMPLANTS INTERNATIONAL, vol. 14, #S3, 2013, pp. S38-S41. (2013) This study qualitatively explored parents’ perspectives on their experiences of, access to, and outcomes from,cochlear implantation for their child with complex needs. Cochlear implantation has come a long way over the years. This study provides a useful insight into the issues raised by parents of deaf children with complex needs. A need for further research in this area of implantation was identified to ensure wider access to this technology for those who may benefit from it and to improve the implantation process for this group of children.

2012-0182 Children with Developmental Disabilities as Candidates for Cochlear Implantation --Ryan, Alexandra MacMeekin. Ohio State University. (2012) In recent years, the number of children with multiple disabilities and severe to profound hearing loss are receiving cochlear implants at an increasing rate (Kim et al. 2008). Preliminary research has established anecdotal data and small outcome case studies for this population. Although the literature has yet to evolve into conclusive findings and no standards of care for the candidacy of children with additional disabilities currently exist, the gains in clinical experience and professionals confidence have led to more implant centers across the country beginning to consider and pursue this type of intervention for children with multiple disabilities. Interdisciplinary teams are an effective way to deliver services to the child and their family. These teams benefit professionals by helping them familiarize with child development and expertise of other team members in an effort to identify potential risk factors in their patients. These identifications can lead to appropriate and timely referrals to other health care providers. This Capstone advocates that with the right research and interdisciplinary teamwork, children with multiple disabilities can be appropriate candidates for cochlear implants. Available on the web: 

2013-0045 Clinical and Audiological Outcomes of Cochlear Implantation : A Restrospective Study of 55 Cases --Khayat, Wehab. (March 2012) The aim of this study was to evaluate the clinical and audiological outcomes of CI patients with a follow up time of at least six months after the surgery.  The study's design is a retrospective clinical study to patients that underwent cochlear implantation. The study aims to evaluate etiologies of the hearing loss, epidemiology (age, sex), geographical distribution, and radiological evaluations before and after the surgery.  It also concentrates on the duration of operation, hospitalization days, applied devices and the complications during and after surgery.  In addition, the study compares the PTA and SCT average before and after CI. Available on the web: 

2007-0329 Cochlear implantation in Children with CHARGE syndrome : Therapeutic decisions and outcomes --Lanson, Biana G.; Green, Janet E.; Roland, Thomas; Lalwani, Anil K.; Waltzman, Susan B. The Laryngoscope, 2007 Jul; Vol. 117, #7, pp. 1260-6. (2007) OBJECTIVES: Ear anomalies and deafness are associated with CHARGE syndrome, which also presents with a cluster of features including coloboma of the eye, heart defects, atresia of the choanae, developmental retardation, and genitourinary abnormalities. The aim of this study is to explore the viability of cochlear implantation in children with CHARGE syndrome and to assess the outcome. STUDY DESIGN: Retrospective chart review. METHODS: Eleven children presenting with severe to profound sensorineural hearing loss associated with CHARGE syndrome were the subjects of this study. Routine audiometric measurements and the Infant Toddler Meaningful Auditory Integration Scale (IT-MAIS) were performed pre- and postoperatively. In addition, the degree of the subjects' cochlear deformity were measured and correlated to outcome. RESULTS: All patients had varying degrees of ear anomalies, seven patients suffered from coloboma of the eyes, two had heart defects, five exhibited choanal atresia, eleven showed developmental retardation, and six had genitourinary abnormalities. Ten of the children underwent cochlear implantation with complete insertion of the electrode array without complication and were followed over a 3-month to a 7-year period. The eleventh child was not implanted because of severe retardation. All of the implanted children showed varying, but limited degrees, of auditory benefit as measured by routine audiometry and the IT-MAIS. CONCLUSIONS: Careful treatment planning for children with sensorineural hearing loss and CHARGE syndrome can lead to varying, but limited degrees, of auditory benefit with no increase in surgical complications. Although the implant enhanced the children's 'connectivity' to the environment, it did not promote the development of oral language skills in this population. Publisher's web site:

2011-0313 Cochlear Implantation Has a Positive Influence on Quality of Life, Tinnitus, and Psychological Comorbidity --Olze, Heidi, M.D.; Szczepek, Agnieszka J. , Ph.D.; Haupt, Heidimarie, Dipl ENG (FH); Forster, Ulrike, M.D.; Zirke, Nina, Dipl Psych; Grabel, Stefan, Dr. rer medic; Mazurek, Birgit, M.D. Ph.D. THE LARYNGOSCOPE, vol. 121, # 10, pp. 2220-2227, October 2011. (2011) This article describes a survey conducted to determine the effect of cochlear implantation (CI) on health-related quality of life (HRQoL), tinnitus, and psychological comorbidity in patients with severe to profound postlingual hearing loss and to analyze the relationship between these parameters. 

2012-0082 Cochlear Implantation in Children with Auditory Neuropathy Spectrum Disorder --Teagle, Holly F.B.; Roush, Particia A.; Woodard, Jennifer S.; Hatch, Debora R.; Zdanski, Carlton J.; Buss, Emily; Buchman, Craig A. EAR & HEARING, vol. 31, #3, 2010, pp. 325-335. (2010) Purpose: To assess speech perception outcomes for children with cochlear implants who have a diagnosis of ANSD as well as their age-matched peers who have sensorineural hearing loss.

Results: The results of this study demonstrate that children with ANSD can clearly benefit from cochlear implantation and that their long-term outcomes are similar to matched peers with SNHL on measures of speech recognition. There were no significant differences across the ANSD and SNHL groups on any of the tested measures.

Conclusion: Cochlear implantation is a viable treatment option for children with a diagnosis of ANSD who are not making auditory progress with hearing aids that have been fit using the Desired Sensation Level method (DSL v5.0). Expected outcomes of cochlear implantation for children with ANSD, excluding children with cochlear nerve deficiency, are no different than for children with non-ANSD SNHL. These results are important for counseling families on the expected outcomes and realistic expectations following cochlear implantation for children with ANSD who demonstrate no evidence of cochlear nerve deficiency.

2012-0003 Cochlear Implantation in Children with Cerebral Palsy --Steven, Richard A.; Green, Kevin M.J.; Broomfield, Stephen J.; Hendersen, Lise A.; Ramsden, Richard T.; Bruce, Iain A. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, vol. 75, pp. 1427-1430, 2011. (2011) Few studies have looked at the outcomes of children with complex needs following cochlear implantation. Increasing evidence supports the case for implantation in children with cerebral palsy. This paper looks at Manchester Cochlear Implant Programme's experience of implantation in 36 children with cerebral palsy.

2011-0213 Cochlear Implantation in Children with CHARGE Syndrome --Southwell, Katherine E.; Bird, Philip A.; Murray, Daran P. COCHLEAR IMPLANTS INTERNATIONAL, vol. 11, #3, September 2010, pp. 170-183. (2010) This article presents details about three children (ages 3, 14, and 17) with CHARGE Syndrome who received cochlear implants. One of the children is described as having visual impairments (bilateral coloboma and glaucoma). All showed improvement in their audiological function--one child has high functioning verbal communication, one uses both sign and verbal communication with improved speech quality and ability to speech read, and the third responds reliably to sound, understands short phrases and attempts to vocalize (vocalizing limited by tracheostomy).

2013-0037 Cochlear Implantation in Children with 'CHARGE Syndrome' : Surgical Options and Outcomes --Ricci, Giampietro; Trabalzini, Franco; Faralli, Mario; D'ascanio, Luca; Cristi, Cristina; Molini, Egisto. EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY,  published online, March 2013, 5 pages. (March 24, 2013) Abstract CHARGE syndrome is a rare, polymalformative disease, representing one 0f the major causes of associated blindness and deafness. Bilateral, severe-profound, senso-rineural hearing loss is common in CHARGE children. Aim of this study is to present our results in children with “CHARGE syndrome” submitted to cochlear implantation (CI). The frequency of anatomic anomalies, possible variations in the surgical technique of CI, and the audiological/rehabilitative benefits attained in our patients are reported. We submitted 5 children affected by CHARGE syndrome with profound, bilateral, sensorineural hearing loss to CI. Otoacoustic emissions, auditory brainstem response, acoustic impedance testing, cranial computed tomography and magnetic resonance were carried out preoperatively in all children. CI was performed using the mastoidotomy-posterior tympanotomy approach in two cases, and the suprameatal approach in three children. Infant toddler-meaningful auditory integration scale was used to evaluate audiological performance before and after CI. Intra-operatory findings and postsurgical complications were evaluated. Among our patients, intraoperative anatomical malformations were cochlear hypoplasia (100 %), ossicles malformations (100 %), semicircular canals aplasia (100 %), oval window atresia (60 %), round window atresia (40 %), widenin g of the aqueduct of the vestibule (20 %), and aberrant course of the facial nerve (20 %). No intra- or postoperative complication was recorded in relation to implant positioning. After a follow-up ranging from 1 to 4.5 years, only 2/5 patients used oral language as the sole means of communication, l started utilizing oral language as the main means of communication, while 2 patients did not develop any linguistic ability. In conclusion, CI in patients with CHARGE association is feasible and, despite results variability, it should be carried out in CHARGE children with severe hearing loss as soon as possible. Although the selection of a specific surgical technique does not seem to influence the audiological outcome, the suprameatal access is valuable when important surgical landmarks (i.e. lateral semicircular canal and incus) are absent.

2013-0097 Cochlear Implantation in Children with Syndromic Deafness --Broomfield, Stephen J.; Bruce, Iain A.; Henderson, Lise; Ramsden, Richard T.; Green, Kevin M.J. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, vol. 77, #8, August 2013, pp. 1312-1316. (August 2013) Objective:To examine the outcome of cochlear implantation in children with syndromic deafness, who are increasingly being considered for cochlear implants and who represent a unique challenge to the cochlear implant team.

Method: In this retrospective case series in a tertiary referral cochlear implant centre, we describe a series of 38 children with a clinical syndrome causing deafness who have undergone cochlear implantation. The outcome measures are Bench–Kowal–Bamford (BKB) speech reception score (range 0–100%) and speech perception ability using the Geers and Moog Speech Reception Score (SRS) (range from 0; no speech perception, to 6; open set recognition of words).

Results: The syndromes identified were Waardenburg syndrome (n = 10), Usher syndrome (n = 9), Pendred syndrome (n = 7), Jervell and Lange–Nielsen syndrome (n = 5), CHARGE syndrome (n = 2), and 1 each of Stickler, CINCA (Chronic Infantile Neurological Cutaneous and Articular), Bartter, Down, and Donnai–Barrow syndromes. After a minimum of 19 months following implantation, BKB was measurable in 20 of 38 patients, and ranged from 46 to 100% in quiet (median 87%, mean 81%). Eighteen children (55%) achieved a SRS at level six, and a further 8 (24%) achieved level five. There was significant variation of outcome between and within syndrome groups.

Conclusions: Additional disabilities are frequently encountered when considering children for cochlear implantation, and may be part of a recognised syndrome. Outcome is often excellent but can be variable even within the same syndrome group, and such children are therefore assessed on an individual basis to ensure a realistic expectation.

2014-0263 Cochlear Implantation in Donnai-Barrow Syndrome --Bruce, Iain A.; Broomfield, Stephen J.; Henderson, Lise; Green, Kevin M. J.; Ramsden, Richard T. COCHLEAR IMPLANTS INTERNATIONAL, Vol. 12, #1, 2011, pp. 60-63. (2011) Donnai-Barrow syndrome (DBS), also known as facio-oculo-acoustico-renal (FOAR) syndrome may cause a combination of hearing loss and visual impairment.  A cochlear implant on a child with this condition was done when he was three years of age but after four years it failed.  He again received cochlear implantation at nine years of age; only this time it was bilateral.  He is mainstreamed 50% of the time and his effective use of the implants has reduced his need for sign language. Audiological evaluation is suggested for children with this syndrome and those with severe-profound sensorineural loss be considered for possible cochlear implantation.

2012-0040 Cochlear Implantation in Superficial Siderosis : A Viable Option? --Grover, Nancy; Whiteside, Olivia J. H.; Ramsden, James D. COCHLEAR IMPLANTS INTERNATIONAL, vol. 2, #4, 2011, pp.241-243. (2011) Objective: Superficial siderosis of the central nervous system is characterized by accumulation of haemosiderin in the subpial layers of the brain and spinal cord. The evidence largely suggests a retrocochlear cause for hearing loss with questionable involvement of cochlea. We present our experience with two patients of superficial siderosis who underwent cochlear implantation, and discuss their outcomes and the underlying pathology.

Clinical presentation: The first patient developed a gradually progressive, profound hearing loss over 25 years, clinical diagnosis being made on MRI scans. The second patient was referred to us with bilateral sensorineural hearing loss, tinnitus, ataxia, dementia, seizures, and visual impairment.

Intervention: Both underwent cochlear implantation for auditory rehabilitation. The first patient gained significant benefit, whereas the second patient has not developed any meaningful auditory stimulation at 9-month post-operative follow-up.

Conclusion: Hearing loss due to superficial siderosis even though predominantly retro-cochlear may be successfully rehabilitated with a cochlear implant. However, outcomes are variable and more evidence regarding experience with cochlear implant in such patients with long-term follow-up is desirable.

2012-0033 Cochlear Implantation Outcomes in Children with Waardenburg Syndrome --Amirsalari, Susan; Ajallouyean, Mohammad; Saburi, Amin; Haddadi fard, Adel; Abed, Maryann; Ghazavi, Yasaman. Iran: Springer-Verlag. EUR ARCH OTORHINOLARYNGOL. (December 11, 2011) Waardenburg syndrome (WS) is an autosomal dominant disease, characterized by dystopia canthorum, hyperplasia of the eyebrows, heterochromia iridis, white forelock, and congenital sensori-neural hearing loss (SNHL). The aim of this study was to evaluate the outcome of cochlear implantation in children with WS and compare it with children with pure SNHL. In a prospective study we evaluated 336 cochlear implanted children from 2008 to 2010. The WS was diagnosed by its established criteria and for control group children without any dysmorphic features, anatomical, behavioral, and developmental disorders were also enrolled. We evaluated children of both groups 1 year after cochlear implantation by categories of auditory performance (CAP) and speech intelligibility rating (SIR) tests. Eighty-one children out of the total 336 who had SNHL were included in study. Out of these 75 (22.3%) were healthy and six (1.78%) had WS. Of the 75 healthy children 40 (53.3%) were girls, while of the six children with WS, three (50%) were girls. There was a significant difference in SIR between WS and cases with pure SNHL (2.67 ± 1.03 vs. 3.79 ± 1.11, p = 021) however, the difference was not significant in CAP (4 ± 1.26 vs. 5.13 ± 1.13, p = 0.082). Prevalence of WS was 1.78% at Baqiyatallah Cochlear Implant Center. One year after implantation there was no significant difference in auditory outcome; however, the difference in speech outcome was significant between WS and cases with pure SNHL.

2008-0124 Communication in the Early Stage of Language Development in Children with CHARGE Syndrome --Peltokorpi, Sini; Huttunen, Kerttu. BRITISH JOURNAL OF VISUAL IMPAIRMENT, vol. 26, #1, 24-49. (2008) In this pilot study from Finland, communication in the early stage of language development in three one- to eight-year-old children with CHARGE syndrome was explored using video recorded free-play interaction sessions and a parental questionnaire. The children had varying degrees of visual impairment as a result of eye colobomas and hearing loss. Video recorded play sessions were the main method of data collection. Methods of analysis were modifications of the Tait Video Analysis and the Communicative Intention Inventory. The study found that the children mainly used gestures, but also vocalization and some signs. The children used shared attention with their mothers most of the time, with initiations comprising almost half of their communicative expressions. Intentional communication covered 15% to 18% of the communicative acts.

2008-0130 Cranial Nerve Manifestations in CHARGE Syndrome --Blake, KD; Hartshorne, TS; Lawand, C; Dailor, A; Thelin, JW. AMERICAN JOURNAL OF MEDICAL GENETICS Part A, Vol. 146A, Issue 5, pp. 585 - 592. (2008) Cranial nerve (CN) anomalies have been regarded as a major criterion for a clinical diagnosis of CHARGE syndrome for some time. However, there have been relatively few studies of the extent of this involvement. A detailed questionnaire (in French or English) was distributed to all physicians who participated in the 2001-2004 Canadian Paediatric Surveillance Program (CPSP), and who identified themselves as caring for an individual with CHARGE syndrome. Clinical data were collected from multiple sources for each individual, including evidence of CN dysfunction. Evidence for CN anomalies recorded by the clinical presentations and evidence from specialized testing, were: weak chewing and/or sucking (CN V), facial palsy (CN VII), sensorineural hearing loss (CN VIII), balance vestibular problems (CN VIII), and swallowing problems (CN IX/X). Data were analyzed as to the frequency of the CN anomalies and compared to the literature. At the time of this study, there were 99 individuals identified with CHARGE syndrome across Canada. The CHARGE syndrome diagnosis was confirmed by geneticists across the country. Gene testing was not available at the time of this study. Of these 92% exhibited symptoms of at least one CN anomaly, and 72% reported involvement of more than one. Isolated CN involvement was rare. Ascertainment was highest for CN IX/X, and lowest for VIII vestibular. The frequency of CN involvement was generally higher than that reported in the literature.

2012-0135 Cross-Modal Plasticity in Cuban Visually-Impaired Child Cochlear Implant Candidates : Topography of Somatosensory Evoked Potential --Charroo-Ruiz, Lidia E., MD, MS; Perez-Abalo, Maria C., MD Ph.D.; Hernandez, Maria C., MD; Alvarez, Beatriz, MD; Beatriz Bermejo, MD; Bermejo, Sandra, MD; Galan, Lidice, Ph.D.; Diaz-Comas, Lourdes, Ph.D. MEDIC REVIEW, vol. 14, #2, April 2012, pp. 23-29. (April 2012) Studies of neuroplasticity have shown that the brain's neural networks change in the absence of sensory input such as hearing or vision. However, little is known about what happens when both sensory modalities are lost (deaf-blindness). Hence, this study of cortical reorganization in visually-impaired child cochlear implant (CI) candidates. The objective was to assess cross-modal plasticity, specifically cortical reorganization for tactile representation in visually-impaired child CI candidates, through study of topography of somatosensory evoked potentials (SEP). Changes in topography are evidence of cross-modal plasticity in visually-impaired child CI candidates, appearing to result from a complex interaction between severity of visual impairment and duration of multisensory deprivation. Available on the web: 

2012-0160 Defining and Evaluating Success in Paediatric Cochlear  Implantation : An Exploratory Study --Black, Jane; Hickson, Louise; Black, Bruce. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, vol. 76, #9, September 2012, pp. 1317-1326. (September 2012) OBJECTIVES: This work is a preliminary study that sought to investigate and develop a method for defining and evaluating "success" in paediatric cochlear implantation (PCI) and to apply a process by which a clinical team could optimally achieve this aim.

METHODS: A pilot group of 25 profoundly deaf children who received a unilateral cochlear implant from 1995 to 2008 was used to develop the process. The cases displayed features that are commonly encountered in PCI. Individual case records were examined retrospectively for adverse factors that might impact on the implantation outcome with particular reference to the probability and severity of impact of each factor. Case prognosis was then rated on a 1-4 basis (1: excellent, 2: good, 3: fair, 4: poor). The subsequent outcomes were assessed using standardised speech (GFW, DEAP), language (PLS-4; CELF) and vocabulary (PPVT; EVT) assessments. Auditory performance outcomes were assessed using a new Categories of Auditory Performance Index (CAPI) that incorporated criteria, testing and scoring aspects. Family issues were also evaluated. Case outcomes were rated 1-4 as above and the prognoses and outcomes were then compared.

RESULTS: Accurate prognostication was seen in 14 cases, 5 had better outcomes than expected and 6 obtained poorer results. "Success", where the outcome equalled or exceeded the prognosis, occurred in 19 (76%) of cases. The successful group contained some "limited gains" cases where the results were nonetheless in line with expectations and parental satisfaction. The detrimental effect of delayed implantation was evident; Connexin 26 (GJB2) mutation had little influence. Poor general medical condition and adverse family situations commonly produced poorer outcomes.

CONCLUSIONS: Success in PCI is achieved when the outcome matches or exceeds the pre-operative expectations of the well-counselled family, without adverse side effects. The assessments achieved a good success rate, but further research is required to clearly identify potential problems and a skilled team is needed to evaluate their risk to the PCI outcome. Unforseen events may also intervene. Currently, differing outcome evaluation techniques impede comparison of studies, particularly in the speech and hearing domains. Rationalization of these is recommended to facilitate future research.

2007-0290 Developmental Delay in CHARGE Syndrome : A Four-Year Follow-Up --Salem-Hartshorne, Nancy. Ann Arbor, MI: UMI Dissertation Services. A dissertation submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy. (2003) 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.

2012-0181 Ear Is Connected to the Brain : Some New Directions in the Study of Children with Cochlear Implants at Indiana University --Houston, Derek M.; Beer, Jessica; Bergeson, Tonya R.; Chin, Steven B.; Pisoni, David B.; Miyamoto, Richard T. JOURNAL OF AMERICAN ACADEMY OF AUDIOLOGY, vol. 23, #6, June 2012, pp. 446-463. (2012) Since the early 1980s, the DeVault Otologic Research Laboratory at the Indiana University School of Medicine has been on the forefront of research on speech and language outcomes in children with cochlear implants. This paper highlights work over the last decade that has moved beyond collecting speech and language outcome measures to focus more on investigating the underlying cognitive, social, and linguistic skills that predict speech and language outcomes. This recent work reflects our growing appreciation that early auditory deprivation can affect more than hearing and speech perception. The new directions include research on attention to speech, word learning, phonological development, social development, and neurocognitive processes. We have also expanded our subject populations to include infants and children with additional disabilities.

2005-0446 Early Oral Sensory Experiences and Feeding Development in Children with CHARGE Syndrome : A Report of Five Cases --Dobbelsteyn, Cindy; Marche, Darlene M.; Blake, Kim; Rashid, Mohsin. DYSPHAGIA, 20, pp. 89-100. (2005) Children with CHARGE Syndrome commonly experience feeding and swallowing problems. Difficulties may be associated with congenital structural anomalies, motor impairment, or oral sensory impairment. For many children, the introduction of functional oral feeding is delayed and there are often long-term feeding complications. Oral aversion or defensiveness is a frequent serious issue but it is uncertain whether this is a primary sensory disorder or secondary to delayed or negative oral sensory and feeding experiences. This article examines the early oral sensory and feeding experiences of five children through a review of medical records and caregiver questionnaires. Findings indicate variable early oral sensory experiences, with all of the children having some difficulty or delay in the development of oral feeding and swallowing. The nature of these difficulties and potential contributory factors are discussed.

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. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, #45, 2003, pp. 483-488. (2003) 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.

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 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 (

2005-0398 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.

2007-0321 Executive Function in Charge Syndrome --Hartshorne, Timothy S.; Nicholas, Jude; Grialou, Tina L.; Russ, Joanna M. Child Neuropsychology; Aug 2007, Vol. 13 Issue 4, p333-344. (2007) This study addressed the presence of executive dysfunction in children with CHARGE syndrome, a genetic disorder with multiple physical anomalies and severe challenging behaviors. Ninety-eight children were included in the study. More than half received clinically significant scores on the Behavior Rating Inventory of Executive Function (BRIEF; Gioia et al., 2000) scales of Shift, Monitor, and the Behavioral Regulation Index, with additional high scores on Inhibit and the Global Executive Composite. Associations were found with the age the child first walked, scores on the Autism Behavior Checklist (ABC; Krug et al., 1993), and being classified as deafblind. Difficulties with making transitions and flexible problem solving, monitoring their work and their effect on others, and acting on impulse, may be related to the behavioral difficulties exhibited by children with CHARGE. Interventions targeting improved self-regulation may help to manage this challenging behavior. 

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:

2007-0355 Familial CHARGE Syndrome : Is there a recurrence risk? --van Ravenswaaij, Conny; Bergman, Jorieke. Costa Mesa, CA: 8th International CHARGE Syndrome Conference, July 26-29, 2007, Costa Mesa, CA. (2007) This short paper offers a clear explanation of the recurrence risk for CHARGE Syndrome. CHARGE Syndrome has a birth prevalence of approximately 1 in 10,000 newborns. About 3% of all persons with CHARGE syndrome have a sibling or a parent who also has CHARGE. In clear terms, the author explains the importance of CHD7 in regulating the expression of developmental genes early in pregnancy. In this research, they found that within families, all affected family members have the same change in CHD7 but their clinical problems may vary a lot and range from very mild to quite severe. In families where more than one member has CHARGE, the more common causes are identical twins or a parent with a milder form of CHARGE. However, there are a few cases of families in which 2 children have CHARGE and the parents are healthy. This probably involves a parent having an altered CHD7 gene in part of her/his body cells, (mosaic.) If the CHD7 change can be found in the parent, either in mosaic or in all cells, then the recurrence risk is elevated (maximal 50%).

2008-0131 Familial CHARGE Syndrome and the CHD7 Gene : A Recurrent Missense Mutation, Intrafamilial Reciurrence and Variability --Jongmans, MCJ; Hoefsloot, LH; van der Donk, KP; Admiraal, RJ; Magee, A; van de Laar, I; Hendriks, Y; Verheij, JBGM; Walpole, I; Brunner, HG; van Ravenswaaij, CMA. AMERICAN JOURNAL OF MEDICAL GENETICS Part A, Vol. 146A, Issue 1, pp. 43-50. (2008) CHARGE syndrome is an autosomal dominant condition that is caused by mutations in the CHD7 gene. Few familial cases of this syndrome have been reported and these were characterized by a wide clinical variability. We here report on five CHD7 mutation positive families and comment on their clinical features. [Although, the article does not identify any of the 11 individuals (from 5 families) in the study as deaf-blind, 4 were listed as having both colobomas and hearing loss.] We observed somatic and germline mosaicism as well as parent-to-child transmission of non-mosaic CHD7 mutations as causes of familial CHARGE syndrome. In one family with two affected sibs a somatic mutation was identified in lymphocytes of a clinically unaffected parent (2520G > A in exon 8). This is the second report of somatic CHD7 mosaicism in an unaffected parent. In two further families with affected siblings, we could not detect the mutation in parental lymphocytes suggesting germline mosaicism. The previously reported clinical variability was strikingly present in all five families. We find that alterations in CHD7 can result in a very mild phenotype, characterized by only a few minor symptoms of the CHARGE syndrome clinical spectrum. Such a mild phenotype was present in two families that shared the same 6322G > A missense mutation. These two families showed parent-to-child transmission. Phenotypically milder forms of CHARGE syndrome have a higher risk of transmission to multiple family members.

2010-0236 Family Survey Results : Children With Deaf-Blindness Who Have Cochlear Implants --Bashinski, Susan M.; Durando, Julie; Thomas, Kathleen Stremel. AER JOURNAL: RESEARCH AND PRACTICE IN VISUAL IMPAIRMENT AND BLINDNESS, Summer 2010, vol. 3, #3, pp. 81-90. (2010) This study examined families' feelings and perceptions about their child's cochlear implant and its impact on the child and the family. Survey research methodology involved both Web-based and paper and pencil formats to maximize the response rate. The survey questions asked about the process of implantation, child outcomes, and the availability and use of support services following implantation. Sixty families completed the survey. Eighty-five percent indicated they would again decide to seek an implant for their child, knowing what they know now.

2008-0255 Feeding Difficulties in Children with CHARGE Syndrome : Prevalance, Risk Factors, and Prognosis --Dobbelsteyn, Cindy; Peacocke, Sean D.; Blake, Kim; Crist, William; Rashid, Mohsin. DYSPHAGIA, vol. 23, #2, June 2008, pp. 127-135. (2008) Children with CHARGE syndrome frequently experience long-term and complex feeding difficulties. This study investigated the prevalence and nature of feeding difficulties in a population of 39 children with CHARGE syndrome and explored the relationship between the clinical characteristics of the syndrome and feeding development. Information was collected via a survey (two questionnaires) completed by the parents. One questionnaire, the Pediatric Assessment Scale for Severe Feeding Problems, provided an objective measure of the current severity of feeding difficulties. Results of the survey indicated a high prevalence of long-term feeding issues in this population. Approximately 90% of the children had received tube feeding at some point in time. In contrast to previous literature, choanal atresia and heart malformations were not found to be significantly related to a higher severity of feeding difficulty or associated with long-term tube feeding. Cranial nerve dysfunction was found to be the primary clinical feature of CHARGE syndrome impacting feeding development, reflected in a high prevalence of weak sucking/chewing, swallowing difficulty, gastroesophageal reflux, and aspiration. The presence of these conditions in infancy suggests the likelihood of long-term feeding difficulty and warrants the ongoing attention of feeding specialists.

2011-0215 The Impact of Additional Difficulties on the Long Term Progress of Cytomegalovirus (CMV)-Deaf Children Following Cochlear Implantation --Inscoe, J. M. Ramirez. COCHLEAR IMPLANTS INTERNATIONAL, vol. 11, #2, September 2010, pp. 104-108. (2010) The purpose of this study was to investigate the prevalence and co-occurrence of additional disabilities in 34 children, deafened by congenital CMV (cCMV), who had received a cochlear implant and to examine the impact of CMV on their long-term educational and linguistic outcomes. The design of the study was a retrospective case series review. Seventy four percent had at least one recorded additional disability, and 35% had 3 or more.  The disabilities included the following: autism spectrum disorders; behavior, cognitive, communication, and physical difficulties; oro-facial and vocal tract abnormalities; and visual impairment (2 children). After 5 years of cochlear implant use, 60% were being educated in special schools, and 10 years post implant only 28% were described as oral language users. The average speech intelligibility rating (SIR score) for children with 5 or more years of cochlear implant use was between category 2 and category 3; that is, they had some intelligible words and known phrases, but were only understood by familiar listeners, who had context information and signing knowledge.

2010-0220 More About Cochlear Implantation in Children with Charge Association --Lina-Granade, Genevieve; Porot, Monique; Vesson, Jean-Francois; Truy, Eric. COCHLEAR IMPLANTS INTERNATIONAL, vol. 11, #1, June 2010, pp. 187-191. (2010) This study describes the outcomes for five boys with CHARGE association who received cochlear implants at a cochlear implantation center in France. Two of the children had visual impairments. The article provides information about the type of surgical procedure that was used, the process of fitting and mapping, speech and language outcomes, and communication modes used by each child at the time of the last assessment.

2008-0509 Ocular Features of CHARGE Syndrome --McMain Karen; Robitaille Johane; Smith Isabel; Johnson Judy; Wood Ellen; Tremblay Francois; Blake, Kim. JOURNAL OF AAPOS, vol. 12, pp. 460-465. (2008) This study describes the presence and severity of ocular and cranial nerve abnormalities found in 9 individuals with CHARGE syndrome in Maritime Canada. Colobomas were the major ophthalmic manifestation. These were typically bilateral chorioretinal colobomas involving the optic nerve. All subjects had bilateral severe sensorineural deafness (cranial nerve VIII), and 8 of 9 (89%) had facial nerve (cranial nerve VII) involvement (unilateral in 7 and bilateral in 1). Unique to this group of participants were the findings of anisometropia in 8 of the 9 (89%), severe myopic astigmatism in 13 of the 18 eyes (72%), and limited elevation in adduction in 3 of 9 (33%) patients. Associated findings were strabismus, cataracts, microcornea, keratopathy, staphyloma, reduced stereopsis, superior visual field defects, and reduced visual acuity.

2007-0453 Olfactory evaluation in children : application to the CHARGE syndrome --Chalouhi C., et. al. Pediatrics 2005 Jul; Vol. 116 (1), pp. e81-8. Date of Electronic Publication: 2005 Jun 15. (2005) To find an efficient tool for testing olfactory function in children and use it to investigate a group of children with CHARGE syndrome. We adapted for children an olfaction test that had just been validated in an adult French population and investigated a control group of 25 healthy children aged 6 to 13 years. We then tested the olfactory capacity of a group of 14 children with CHARGE syndrome, aged 6 to 18 years. A questionnaire was completed with the parents about their children's feeding difficulties and their ability to recognize odors in everyday life. We recorded and scored the histories of feeding behavior anomalies, the visual and auditory status, and current intellectual levels. MRI of the olfactory tracts and bulbs was analyzed for 9 of 14 children. We showed that healthy children have similar olfactory function to that of the adult control group, which was representative of the general population, without any difference for either gender or age. We also showed that all children with CHARGE syndrome had olfactory deficiency. Half of them were anosmic, and the others had olfactory residual function (hyposmic). We found no association between olfactory deficiency and feeding behavior, visual or auditory impairment, or intellectual level. Parental subjective evaluations were accurate for only half of the group. All of the MRIs showed anomalies of the olfactory tracts and bulbs varying from moderate hypoplasia to complete aplasia, without any relation between the radiologic and the functional results. Olfaction can be assessed in children, even the young and disabled. Our results support the proposition that rhinencephalon anomalies should be included as a major criterion for the diagnosis of CHARGE syndrome. Publisher's web site:

2010-0068 Ophthalmologic Disorders in Children With Syndromic and Nonsyndromic Hearing Loss --Johnston, Douglas R.; Curry, Joseph M.; Newborough, Brian; Morlet, Thierry; Bartoshesky, Louis; Lehnam, Sharon; Ennis, Sara; O'Reilly, Robert C. ARCHIVES OF OTOLARYNGOLOGY HEAD NECK SURGERY, 136(3), March 2010, 277-280. (2010) The goal of this study was to identify the rate of eye disorders in 77 children with syndromic and nonsyndromic congenital sensorineural hearing loss (SNHL), but with no other history of ophthalmologic disease. Children with well-defined risk factors for ophthalmologic and auditory impairment (e.g., prematurity, congenital infections) were excluded. The method was a retrospective review of the medical records of children with congenital SNHL seen in a department of otolaryngology at a pediatric hospital over a 5-year period who received ophthalmologic and genetic evaluations. A clinically significant ophthalmologic disorder was identified in 25 of 77 (32%). When children with multisystem genetic disorders known to be related visual loss were excluded, the rate fell to 23% (12 of 53 without, as compared to 13 of 24 with, a multisystem disorder). Although this rate of vision loss is lower than the rate for children with systemic disorders, it is still 2 to 3 times that of the general pediatric population. This indicates a need for ophthalmologic evaluation in children with apparently isolated SNHL. The children with multisystem conditions had a variety of conditions including CHARGE syndrome (2), Down syndrome (2), Waardenburg syndrome (2). None had Usher syndrome. The degree of SNHL was not predictive of eye or vision abnormalities. The most common types of problems were motility disorders (inward or outward eye deviation), refractive disorders (near-sightedness, far-sightedness, anisometropia, astigmatism), structural disorders (iris heterochromia, coloboma, cataracts), and neuro-ophthalmologic disorders (optic atrophy, nystagmus, optic disc anomaly).

2013-0189 Outcomes for Children Who Are Deaf-Blind After Cochlear Implantation: Research Brief: Family Perspectives on Cochlear Implants --Cochlear Implants for Children Who Are Deaf-Blind (CIDB) CIDB, 2010, pp. 1-4. (2010) This research brief is the result of a study, Outcomes for Children Who Are Deaf-Blind after Cochlear Implants.  It is a summary of an article about a family survey conducted in fall 2009 in which 60 families participated.  The results of this initial study were helpful in the development of a second study. For additional information about the family survey see:  Bashinski, S.M., Durando, J. & Stremel, K.  Family survey results: Children with deaf-blindness who have cochlear implants. AER Journal: Research and Practice in Visual Impairment and Blindness.

2011-0196 Pediatric Cochlear Implant Outcomes for Children Switched on Under 2 Years, Over 2 Years, and Those With Complex Needs --Britz, Anzel; Fry, Lauren; Owston, Kathy. COCHLEAR IMPLANTS INTERNATIONAL, vol. 11, supplement, #2, September 2010, pp. 94-98. (2010) This study described outcomes for children who received cochlear implants at a pediatric cochlear implant center in the UK. The group was divided into three categories: those with no additional disabilities who were switched on before age 2; those with no additional disabilities who were switched on after age 2; and those with complex needs (no details are provided about visual impairment). It found that children implanted before age 2 were able to acquire auditory skills near to their normal hearing peers and that children implanted after age 2, or who had complex needs, made slower progress.  The authors note that progress for children with complex needs is not always recognized using the types of formal assessment tools that were used in this study.  Other potential outcomes (not evaluated) include quality of life, self-confidence, and social integration.

2013-0039 Pediatric Cochlear Implants : Additional Disabilities Prevalence, Risk Factors, and Effect on Language Outcomes --Birman, C.S.; Elliott, E.J.; Gibson, W.P.R. OTOLOGY & NEUROTOLOGY, vol. 33, 2012, pp. 1347-1352. (2012) Objective: To determine the prevalence of additional disabilities in a pediatric cochlear population, to identify medical and radiologic conditions associated with additional disabilities, and to identify the effect of additional disabilities on speech perception and language at 12 months postoperatively. Study Design: Retrospective case review. Setting: Tertiary referral center and cochlear implant program. Patients: Records were reviewed for children 0 to 16 years old inclusive, who had cochlear implantYrelated operations over a 12-month period. Interventions: Diagnostic and rehabilitative. Main Outcome Measures: Additional disabilities prevalence; medical history and radiologic abnormalities; and the effect on Categories of Auditory Performance (CAP) score at 12 months postoperatively.Results: Eighty-eight children having 96 operations were identified. The overall prevalence of additional disabilities (including developmental delay, cerebral palsy, visual impairment, autism and attention deficit disorder) was 33%. The main conditions associated with additional disabilities were syndromes and chromosomal abnormalities (87%), jaundice (86%), prematurity (62%), cytomegalovirus (60%), and inner ear abnormalities including cochlea nerve hypoplasia or aplasia (75%) and semi-circular canal anomalies (56%). At 12 months postoperatively, almost all (96%) of the children without additional disabilities had a CAP score of 5 or greater (speech), compared with 52% of children with additional disabilities. Children with developmental delay had a median CAP score of 4, at 12 months compared with 6 for those without developmental delay. Conclusion: Additional disabilities are prevalent in approximately a third of pediatric cochlear implant patients. Additional disabilities significantly affect the outcomes of cochlear implants.

2012-0004 Prognostic Indicators in Paediatric Cochlear Implant Surgery : A Systematic Literature Review --Black, Jane; Hickson, Louise; Black, Bruce; Perry, Chris. Maney Publishing. COCHLEAR IMPLANTS INTERNATIONAL, vol. 12, #2, pp. 67-93, May 2011. Cochlear Implants International, Volume 12, Number 2, May 2011 , pp. 67-93(27) (2011) Paediatric cochlear implantation (PCI) requires complex case evaluation and counselling, surgical intervention and habilitation. Outcomes vary and many cases have sub-optimal outcomes as a result of a broad spectrum of adverse influences. The objective of this study was to systematically review the literature to identify research papers that indicate a demonstrated outcome or prognostic factor in paediatric CI, the overall aim being to develop a prognostic index for clinical use. The literature review concluded evaluation of relevant adverse prognostic factors in paediatric CI remains a largely unreported field. Better identification of these factors is required of improving vital pre-operative counselling and resultant sugrical expectations and outcomes.

2007-0460 Psychiatric Diagnoses and Psychotropic Medications in CHARGE Syndrome : A Pediatric Survey --Wachtel, Lee; Hartshorne, Timothy; Dailor, A Nichole. Journal of Developmental & Physical Disabilities, Oct 2007, Vol. 19 Issue 5, p. 471-483. (2007) Many children diagnosed with CHARGE syndrome demonstrate behavioral difficulties in addition to visual, hearing and other systemic impairments. Previous research has reported that children with CHARGE have increased rates of self-injury and aggression, as well as increased frequency of obsessive compulsive and autism spectrum disorders. This study asked parents to report not only the diagnoses given for their child’s behavior problems, but also whether psychotropic medication interventions were prescribed, and which agents were chosen. Results of this study showed that according to parental report, anxiety disorders and pervasive developmental disorders were the most common psychiatric diagnoses assigned with antidepressant and antipsychotic medications the most frequently prescribed psychopharmacological agents. Publisher's web site:

2011-0212 Recognising Additional Disabilities in Children Implanted Under Two Years of Age --Harriott, Margie; Mustard, Jill. COCHLEAR IMPLANTS INTERNATIONAL, vol. 11, #2, September 2010, pp. 125-129. (2010) This study reviewed data on 30 children implanted under two years of age to determine how accurately additional disabilities were recognised prior to cochlear implantation. The vision status of the children is not provided. Outcomes in auditory development at one year post implant were reviewed. Significant differences were evident between children with disabilities and those without.

2010-0237 Reliability and Fidelity of the van Dijk Assessment --Nelson, Catherine; Janssen, Marleen; Oster, Teresa; Jayaraman, Gayatri. AER JOURNAL: RESEARCH AND PRACTICE IN VISUAL IMPAIRMENT AND BLINDNESS, Summer 2010, vol. 3, #3, pp. 71-80. (2010) The van Dijk Framework for Assessment of Children and Youth with Multiple Disabilities and Deaf-Blindness provides a child-guided approach to assessment that examines the processes children use as they learn and internalize information. However, the fluid nature of the child-guided assessment creates challenges for determining interrater reliability. This study examined specific quality indicators for successful implementation of the model, the ability of practitioners to implement the assessment with fidelity, and the ability of multiple examiners to look at the same child assessment and reliably come to similar conclusions. Nine educators with responsibilities to conduct assessments of individuals with deaf-blindness each used the assessment with two children or youth (between the ages of 2 and 21 years) with deaf-blindness and multiple disabilities. On average, the educators were able to implement the assessment with fidelity. In addition, multiple examiners were able to reliably reach similar conclusions in all assessment areas.

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:

2007-0320 Risk factors for poor bone health in adolescents and adults with CHARGE syndrome --Forward, Karen E.; Cumming, Elizabeth A.; Blake, Kim D. Am J Med Genet Part A 143A:839-845. (2007) CHARGE syndrome, is associated with genital hypoplasia, feeding difficulties and delayed puberty. In this study we examined the prevalence of risk factors for poor bone health in adolescents and adults with CHARGE. Questionnaires assessing fracture history, dietary intake of calcium and vitamin D, pubertal status and activity level using the Habitual Activity Estimation Scale (HAES) were completed by caregivers. Control data were collected for the HAES. When available, reports from dual-energy X-ray absorptiometry (DEXA) were obtained. Thirty individuals with CHARGE syndrome (n = 15 males; n = 15 females; age range 13 to 34 years; mean age 19.6 years) were recruited. Traumatic bony fractures were identified in 30% of the population. The recommended nutritional intake (RNI) for calcium and vitamin D were not met by 41% and 87% of the population, respectively, and 53% required past tube feeding. Delayed puberty was experienced by 87% with only 4 individuals (2 female, 2 males) having experienced normal puberty. Hormone replacement therapy (HRT) was taken by 33% of females and 60% of males. According to the HAES, adolescents with CHARGE syndrome (13-18 years) were significantly less active than controls. Individuals with CHARGE syndrome age 19 and older were also less active than controls, although this difference was not significant. DEXA scan data was obtained, however, due to small sample size (n = 10) and confounding variables (i.e., short stature, pubertal stage, height, weight), it was difficult to draw meaningful conclusions. Feeding difficulties, inactivity and hypogonadism are predisposing factors for the development of poor bone health among individuals with CHARGE syndrome. Education is necessary to raise awareness regarding the importance of HRT, proper nutrition and weight-bearing activity for healthy bone development and maintenance in individuals with CHARGE syndrome.

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:

2009-0040 Sleep Disturbances in CHARGE Syndrome: Types and Relationships with Behavior and Caregiver Well-Being --Hartshorne, Timothy S.; Heussler, Helen S.; Dailor, A. Nichole; Williams, George L.; Papadopoulos, Dimitrios; Brandt, Kimberly K. DEVELOPMENTAL MEDICINE and CHILD NEUROLOGY, vol. 51, #2, pp. 143-150. (2009)Children with CHARGE syndrome frequently develop moderate to severe behavior difficulties and are often diagnosed with obsessive-compulsive disorder, attention deficit disorder, Tourette syndrome, and autism. Anecdotal reports have indicated that sleep is also affected. However, the prevalence and types of sleep disturbance have not been identified. This study investigated sleep disturbances in 87 children with CHARGE syndrome, aged 6 to 18 years. Eighteen of the children were deaf-blind. There were 52 males and 35 females. Instruments included measures of sleep (Sleep Disturbances Scale for Children [SDSC]), behavior (Developmental Behaviour Checklist [DBC]), and carer well-being (Malaise Inventory). On the SDSC, 57.5% received scores considered significant for sleep disturbances, with disorders of initiating and maintaining sleep, sleep breathing disorders, and sleep-wake transition being the most common. The SDSC was significantly correlated with the DBC (p=0.010) and the Malaise Inventory ( p=0.003). Regression analysis found that both problem behavior and sleep disturbances contributed to the prediction of scores on the Malaise Inventory. Being both deaf and blind (p=0.001), experiencing frequent middle-ear infections ( p=0.015), and starting to walk at an older age ( p=0.007) were associated with more sleep disturbance. Craniofacial anomalies were not. The study highlights the importance of addressing the sleep difficulties associated with CHARGE syndrome relating both to airway management and to disorders of initiating sleep.

2012-0047 Speech Recognition and Communication Outcomes with Cochlear Implantation in Usher Syndrome Type 3 --Pietola, Laura; Aarnisalo, Antti A.; Abdel-Rahman, Akram; Vastinsalo, Hanna; Isosomppi, Juha; Lopponen, Heikki; Kentala, Erna; Johansson, Reijo; Valtonen, Hannu; Vasama, Juha-Pekka; Sankila, Eeva-Marja; Jero, Jussi. OTOLOGY AND NEUROTOLOGY, vol. 33, #1, 2011, pp. 38-41. (2011)Background: Usher syndrome Type 3 (USH3) is an autosomal recessive disorder characterized by variable type and degree of progressive sensorineural hearing loss and retinitis pigmentosa. Cochlear implants are widely used among these patients.

Objectives: To evaluate the results and benefits of cochlear implantation in patients with USH3.

Study Design: A nationwide multicenter retrospective review.

Materials and Methods: During the years 1995Y2005, in 5 Finnish university hospitals, 19 patients with USH3 received a cochlear implant. Saliva samples were collected to verify the USH3 genotype. Patients answered to 3 questionnaires: Glasgow Benefit Inventory, Glasgow Health Status Inventory, and a self-made questionnaire. Audiological data were collected from patient records.

Results: All the patients with USH3 in the study were homozygous for the Finnish major mutation (p.Y176X). Either theyhad severe sensorineural hearing loss or they were profoundly deaf. The mean preoperative hearing level (pure-tone average, 0.5Y4 kHz) was 110 T 8 dB hearing loss (HL) and the mean aided hearing level was 58 T 11 dB HL. The postoperative hearing level (34 T 9 dB HL) and word recognition scores were significantly better than before surgery. According to the Glasgow Benefit Inventory scores and Glasgow Health Status Inventorydata related to hearing, the cochlear implantation was beneficial to patients with USH3.

Conclusion: Cochlear implantation is beneficial to patients with USH3, and patients learn to use the implant without assistance.

2012-0142 Strengths and Difficulties with Cochlear Implants : Comparing Self-Reports with Reports from Parents and Teachers --Anmyr, Lena; Larsson, Kjerstin; Olsson, Mariann; Freijd, Anders. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, May 2012, pp.1-6. (May 2012)The aim of this research was to explore and compare how children with cochlear implants, their parents, and their teachers perceive the children's mental health in terms of emotional and behavioral strengths and difficulties. The results indicated that children with cochlear implants express greater concerns about their mental health than their parents and teachers do. This is important knowledge for adults in families, schools, and health care in order to support these children and offer treatment when needed.

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