CHARGE Syndrome - General Information Bibliography

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


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) OBJECTIVES:

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.

METHODS: 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.

RESULTS: 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).

CONCLUSIONS: 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.


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


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.


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.

METHODS: 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.

RESULTS: 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).

CONCLUSIONS: 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.


Can CVI* Co-Exist With Other Ocular Impairments in CHARGE? : A Parent's Perspective --Lauger, Kim. CHARGE ACCOUNTS, vol. 13, #2, Summer 2003, pp. 2-4. (2003) This article tells the story of Dylan, as written by his mother, and their work with doctors on both CHARGE and Cortical Visual Impairment (CVI). Included are descriptions of visits with doctors and educators, as well as a section on the current debate about CHARGE/CVI. Also includes a fact sheet on CVI with definition, cause, characteristics, behavioral/visual characteristics and contact information.


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.


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


CHARGE Syndrome --Brown, David. Presentation at the California Coming Together Conference, San Diego, May 16, 2002. (2002) This document present's a teacher's description of CHARGE Syndrome at the California Coming Together Conference on Deaf-Blindness. The presenter reviews possible causes and recurrence risks of the syndrome and provides diagnostic criteria and developmental implications such as problems with balance, vision, hearing and communication development. It also includes a list of what educator's need to know about working with a student with CHARGE Syndrome, and contact information for the CHARGE Syndrome foundation.


CHARGE Syndrome : Educational and Technological Interventions --Griffin, Harold C.; Davis, Mary Lynne; Williams, Sarah C. RE:VIEW, vol. 35, #4, Winter 2004, pp.149-157. (2004) Reviews the physiological characteristics of CHARGE Syndrome; educational interventions including communication and motor development strategies; and the use of technology to stimulate exploration, promote understanding of cause and effect, develop self-help skills, and teach language.


CHARGE Syndrome : A Management Manual for Parents --Hefner, Meg, M.S. (Ed.); Davenport, Sandra H.L., M.D. (Ed.) Columbia, MO: CHARGE Syndrome Foundation, Inc. (2002) The manual contains a brief history of the CHARGE Foundation, parent stories about major medical and developmental issues impacted by CHARGE, an article by Sandra Davenport on the influence of sensory loss on development, and a section on the medical aspects and management of CHARGE Syndrome. The medical section is divided into sub-sections according to areas of the body. Each sub-section has two parts: a doctor section and a parent section. The sections for physicians are written by medical specialists and are brief and use medical terminology. Parents are encouraged to make copies of the physician section to give doctors. The sections written for parents offer more background information, explain medical terminology and use diagrams. Forms that parents can use to keep track of information needed for medical appointments and case management are included. The manual also contains a glossary and resource section. Available on the web:


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


Charge Syndrome Characteristics --Davenport, Sandra L.H. Austin, TX: Texas Deafblind Project. 2005 Texas Symposium on Deafblindness. (2005) Updated description of CHARGE, findings by the acronym: C for Coloboma, cranial nerve problems; H for heart malformations; A for atresia or stenosis of the choanae; R for retardation of growth or development; G for genitourinary anomalies; E for ear anomalies and other findings beyond the acronym.


CHARGE Syndrome Research Summaries CHARGE ACCOUNTS, vol. 12, #3, Fall 2002, pp. 6-11. (2002) This article provides a summary of research and results of several studies involving CHARGE syndrome. Looks at a current study trying to identify the gene(s) involved in CHARGE syndrome. Shows results from studies looking for a gene to studies ruling out a gene responsible for the syndrome. Discusses a future study to look at risk factor patterns. Other studies discussed include looking at puberty and growth in CHARGE and hearing loss in children with CHARGE. Studies involving the behavioral characteristics of CHARGE including challenging behaviors and features of CHARGE are included as well.


Chracteristics [sic] and Development of Children with CHARGE Association/Syndrome --Salem-Hartshorne, Nancy; Jacob, Susan. JOURNAL OF EARLY INTERVENTION, vol. 26, #4, pp.292-301. (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.


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.


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: 


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: 


Cochlear Implantation --Todd, N. Wendall, M.D, M.P.H. San Diego, CA: Plural Publishing. CHARGE Syndrome. Timothy S. Hartshorne, Margaret A. Hefner, Sandra L. H. Davenport, James W. Thelin (Eds.) (2011) Chapter 9 within the book CHARGE Syndrome covers cochlear implantation.  It includes sections on indications for cochlear implantations, complications and problems with cochlear implantation, outcomes, reports on two patients implanted by the author and concludes with a brief paragraph on cochlear implantation surgery in the future. Publisher's web site:


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.


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.


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.


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).


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.


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.


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.


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.


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.


Cognitive Skills in Children with Usher Syndrome Type 1 and Cochlear Implants --Henricson, Cecilia; Wass, Malin; Lidestam, Bjorn; Moller, Claes; Lyxell, Bjorn. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, vol. 76, pp. 1449–1457. (2012) This study examined phonological and lexical skills and working memory capacity of 7 children (aged 7 to 16 years) who have Usher Syndrome Type 1 and cochlear implants and compared their performance with children with normal hearing, children with hearing aids, and children with cochlear implants but not usher syndrome.


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: 


Data Collection Revolution : How LENA Pro Helped  Me Streamline My Research Strategy for a Cochlear Implant Study --Stremel Thomas, Kathleen. WWW.LENAFOUNDATION.ORG, # 27, June 2010. (2010) The author describes a research project to investigate outcomes following cochlear implantation in children who are deaf-blind and how LENA is being used to collect data. Available on the web: 


Deaf Parents and Pediatric Cochlear Implantation : An Exploration of the Decision-Making Process --Hardonk, Stefan; Daniels, Sarah; Desnerck, Greetje; Loots, Gerrit; Van Hove, Geert; Van Kerschaver, Erwin; Sigurjonsdottir, Hannah Bjorg; Vanroelen, Christophe; Louckx, Fred. AMERICAN ANNALS OF THE DEAF, vol. 156, #3, 2011, pp. 290-304. (2011) The study examined factors in deaf parents' decision between cochlear implantation (CI) and traditional hearing aids for their child. The subjects were 6 Flemish children ages 5-9 years with severe/profound congenital hearing loss, with at least 1 deaf parent. The researchers, who conducted thematic content analysis of qualitative data collected through parent interviews, found that with the exception of a family with 1 hearing parent, parents gave priority to Deaf identity, sign language, and ethical issues in deciding between CI and hearing aids. Medical risks were also mentioned. The researchers conclude that the decision-making processes of the parents involved factors that have also been found among hearing parents, as well as aspects that have not been reported to play a role in hearing parents' decision making. A further conclusion is that deaf parents' perspective merits attention in professional practice and empirical research.


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. Rationalisation of these is recommended to facilitate future research.


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.


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.


Educational and Behavioral Implications of Missing Balance Sense in CHARGE Syndrome --Brown, David. California Deaf-Blind Services. RESOURCES, vol. 10, #15, Spring 2003, pp. 1-5. (2003) This article addresses the pervasive missing sense of balance among people with CHARGE syndrome. It provides information on the possible causes of this, as well as related issues such as low muscle tone, equilibrium problems, and the links between balance and hearing/vision. Also included is a description of sensory integration dysfunction and suggestions for parents and educators. Available on the web:


Educational Interpreters: Meeting the Communication Needs of Children with Cochlear Implants --Melton, Julie; Higbee, Renee. ODYSSEY, vol. 14, 2013, pp. 60-62. (2013) This article addresses the role educational interpreters can play for students with cochlear implants,  An interpreter can provide access to classroom information through visual means to support what a student with an implant receives auditorially. The decision ot provide interpreter support should be made by the team that determines the student's Individualized Education Program (IEP).


Evaluating Benefits of Cochlear Implantation in Deaf Children with Additional Disabilities --Palmieri, Maria; Berrettini, Stefano; Forli, Francesca; Trevisi, Patrizie; Genovese, Elisabetta; Chilosi, Anna Maria; Arslan, Edoardo; Martini, Alessandro. EAR AND HEARING, vol. 33, # 6, 2012, pp. 721-730. (2012) Cochlear-implanted deaf children who have additional disabilities may develop speech perception and language skills at a slower pace than their implanted peers without such disorders. However, even for these special cases, cochlear implantation provides benefits for a larger range of neuropsychological functions including social and relational skills. These benefits are frequently mentioned by parents, but rarely objectively measured by tests. This article describes a new evaluation tool to assist in the assessment of benefits offered by cochlear implantation in these special cases and presents the results of its use with the parents of 50 children.


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.


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.


Hearing, Hearing Aids and Implants in CHARGE Syndrome --Thelin, James W. Miami Beach, FL: 7th International CHARGE Syndrome Conference, July 22nd - July 24th, 2005, Miami Beach, Florida. (2005) This paper is divided in three sections, hearing, hearing aids and implants. Each section has a section called personal factors which has a list of questions that help personalize the information. Each section also has a list of factors that discuss specific CHARGE related things relating to hearing, hearing aids or implants.


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.


Included, Valued, Accepted --Ring, Jane; Fowler, Clive. TALKING SENSE, vol. 58, #3, Autumn/Winter 2013, pp. 26-27. (2013) This article is a dialog between a parent and educational consultant from England on the journey of education for her and her husband with their 5 year old daughter, Chloe. Chloe is deaf-blind and received a cochlear implant at 14 months.  Her mother reflects on the coordination of services, preschool and entering primary school and the transitions that occur.  Her inclusion at the primary school with children without disabilities and the development of friendships and connections is briefly described.


Increasing the Effectiveness of Communication and Language : Being "In the Zone" --Stremel, Kathleen. Cleveland, OH: Proceedings of the 6th International CHARGE Syndrome Conference, July 25-27th, 2003, Cleveland, OH. (2003) This presentation provides a checklist that parents can use to determine how their children might be more effective communicators. The presentation also emphasizes how specific interactive techniques that are "in the zone" may be implemented in order that children become more effective communicators. These techniques include using: joint attention, joint activities, turn-taking activities, full routines, tangible feedback and reinforcement systems, systematic instruction (school-home), scaffolding, and conversational topics and turns. Also available is a CD-ROM containing an audio version of this presentation.


Individuality Within a Syndrome : Two Faces of CHARGE --Weir, Lisa; Fice, Angela. Brantford, Ontario: Canadian Deafblind and Rubella Association. 13th DbI World Conference on Deafblindness Conference Proceedings, August 5-10, 2003, Mississauga, Ontario, Canada. (2003) This is the text of a workshop presentation given at the 13th DbI World Conference on Deaf-Blindness. The paper describes two children born with CHARGE and the variations between the two children. Their parents want to illustrate the individuality of persons born with CHARGE syndrome


The Intervener : Big Idea, Substantial Results --D'Luna, Debra. CA: California Deaf-Blind Services. reSources, Winter 2006, Vol 12, #2, p.1-4. (2006) The author is a parent of an 18 year old daughter, Alexis, who is deaf-blind as a result of CHARGE Syndrome. In this article the author describes Alexis's educational experiences from pre-school through high school and the significant role interveners have played in making her educational experiences successful. The article describes various ways that Alexis's intervener facilitated her successful inclusion in academic and social settings. Available on the web:


It Sounds Nice, But is Inclusion Really Worth It? --Hartshorne, Nancy, Ed.S. DEAF-BLIND PERSPECTIVES, vol. 9, #2, Winter 2001/2002, pp. 12-13. (2001) This article gives a parent's perspective on inclusion, specific to a boy with CHARGE syndrome and deafblindness. His mother, also a school psychologist, describes his school program and what may have happened if he had not been included in some regular education classrooms. Available on the web:


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


Mistaking Courage for Denial : Family resilience after the birth of a child with CHARGE Syndrome --Hartshorne, Timothy. Miami Beach, FL: 7th International CHARGE Syndrome Conference, July 22nd - July 24th, 2005, Miami Beach, Florida. (2005) Copy of a PowerPoint presentation describing a model of stress and resilience. Identifies and A,B,C, X model, with A being the stressor event, B - perception, C - resources, X- coping outcome. Lists out research findings, influences on perceptions, appraisal of meaning, professional misunderstanding and parent binds, family needs and outcomes such as sense of community and marathon skills.


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.


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.


Outcomes for Children With Deaf-Blindness With Cochlear Implants : A Multisite Observational Study --Wiley, Susan; Meinzen-Derr, Jareen; Stremel-Thomas, Kathleen; Schalock, Mark; Bashinski, Susan M.; Ruder, Charlotte. OTOLOGY AND NEUROTOLOGY, vol. 34, 2013, pp. 507-515. (2013) Introduction: Children with dual sensory impairments are receiving cochlear implants; however, little is known regarding their language outcomes. Materials and Methods: Children between the ages of 6 months and 8 years with dual sensory impairment and cochlear implant(s) were recruited from across the United States to participate in an evaluation of language skills using the Reynell-Zinkin Developmental Scales, a tool validated on children with vision impairment and adapted for children with hearing loss. Basic demographic information was also collected from care givers. Results: Ninety-one children completed assessments after implantation. For receptive language abilities, 32% of children obtained a level of sound detection, 15% obtained the ability to understand simple words, 21% could identify words, 5% could follow simple directions, and 22% could follow directions related to the functional use of objects. Four children had no response to sound after cochlear implantation. For expressive language abilities, 49% only had sound production skills, 9% could jargon, 18% could communicate with some words, 12% could communicate with simple sentences, and 12% could communicate with complex sentences. Children with lower developmental ages (or quotients) tended to obtain lower level expressive language skills such as sound production and jargoning. Developmental abilities, rather than age at implant, were the most robust predictor associated with outcomes. Discussion: This information can guide cochlear implant centers when discussing outcomes with families in the cochlear implant candidacy process. There is great heterogeneity in outcomes and caution should be used in discussing possible language outcomes for children with dual sensory impairments.


Outcomes of Cochlear Implantation in Children with CHARGE Syndrome --Ahn, Joong Ho; Lee, Kwang-Sun. ACTA OTO-LARYNGOLOGICA, vol. 133, 2013, pp. 1148-1153. (2013) CONCLUSION:

Regardless of the extent of inner ear anomalies and intellectual faculties, cochlear implantation (CI) with careful treatment planning can be a highly effective option for hearing rehabilitation in children with sensorineural hearing loss and CHARGE syndrome.


CHARGE is a mnemonic term for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is one of the leading causes of congenital deafness and blindness in children. We evaluated the language performance of six pediatric patients with CHARGE syndrome.


Six patients with CHARGE syndrome underwent CI at the Asan Medical Center in Seoul between 2002 and 2012. The mean age of these CI patients was 4.9 years (range 2-9.8 years). All six patients had inner ear malformations; five children had an auricle anomaly and otitis media with effusion; three of these cases showed ossicle anomalies and four patients had downward displacement of the facial nerve (FN) toward the promontory; five patients showed delayed development; four of these children had cardiovascular malformations; three patients had cryptorchidism; two had choanal atresia; and there was one case of coloboma.


In the initial operations, two patients each were implanted with a CI512, CI24R, or CI24RE device. One patient initially received a CI512 device in the right ear, followed by a CI24RE device in the left ear. Another patient (case 1) first received a CI24R and then CI24RST device in the right ear due to poor performance, but this was eventually removed due to exposure of the electrode from adhesive otitis media and continuing poor performance. Assessment of the meaningful auditory integration scale (MAIS) showed that four patients reached a score above 95% and one patient achieved 60%. The categories of auditory performance (CAP) score showed that one patient reached CAP 7 at 2 years postoperatively and two cases showed CAP 5.5 at 1 year after implantation, while the remaining two patients had CAP scores of 3 at 12 months and 4.5 at 4 years, respectively. The speech intelligibility rating (SIR) score at 18 months post-surgery was 4.5 in two patients, 2.5 in two patients, and 1.5 in one case. The remaining patient (case 1) who was explanted showed no meaningful speech improvement.


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.


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.


Physical Influences on the Development in CHARGE : Influence of Sensory Loss on Development, The communication bubble --Davenport, Sandra. Miami Beach, FL: 7th International CHARGE Syndrome Conference, July 22nd - July 24th, 2005, Miami Beach, Florida. (2005) Article discusses the impact of hearing and visual impairments on a child's ability to take in information. Also introduces the concept of the communication bubble, that is the physical area in which the child can see and/or hear, to receive information from the communication partner. Includes a diagram of external and internal physical influences that have a profound effect on the child's development and understanding of the world.


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.


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.


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. 


Rocks, Hard Places, and Stone-Cutting Tools --Dignan, Mary. CNSDB, #41, Summer 2010, pp. 15-20. (2010) This personal narrative is from a woman with Type 2 Usher syndrome.  She describes some of the changes in her vision and hearing over the years and her determination to be the best that she can be.  She traveled to Toronto to receive personalized training to regain her mobility confidence, adaptive computer skills, improved Braille proficiency and overall strategies and techniques so that she could get on with her life. She describes the "rocks and hard places" of deaf-blindness and although her world is different and more difficult it is not diminished.  Mary believes life is a team effort.


Sami's Story --Knoy, Mary. DEAFBLIND FOCUS, vol. 22, #1, Fall 2011, pp. 1-3. (2011) The is a story from a parent of a child with CHARGE syndrome.  The family began by being foster parents to Sami and then adopted her when her family could not meet all her medical needs. The article describes the miracle that Sami is to her family and the medical interventions she has been through. There is a brief section on What is CHARGE syndrome with a link to the CHARGE Syndrome Foundation website and the Indiana Families of Children with CHARGE Syndrome Facebook page.


School Issues for Parents --Brown, David, M.A. Cleveland, OH: Proceedings of the 6th International CHARGE Syndrome Conference, July 25-27th, 2003, Cleveland, OH. (2003) This presentation describes some of the main features of CHARGE Syndrome that are likely to impact on educational programming and classroom management. Describes the importance of individualizing the educational program, working as an inter-disciplinary team, and adopting a whole-child approach. Also available is a CD-ROM containing an audio version of this presentation.


School Issues for Teachers : Education of Children Who Have CHARGE Syndrome --Majors, Martha M.; O'Donnell, Kimberly; Stelzer, Sharon. Cleveland, OH: Proceedings of the 6th International CHARGE Syndrome Conference, July 25-27th, 2003, Cleveland, OH. (2003) This presentation focuses on three major topics related to the education of children who have CHARGE Syndrome. They are communication strategies, curriculum access, and educational strategies. Reviews the types of curriculum that should be available across school settings. Describes the development of a communication system. Brief case studies are discussed to give examples of how students have developed communication skills using both sign language and a visual such as pictures. Describes specific teaching strategies that support success in the classroom/home setting. Also available is a CD-ROM containing an audio version of this presentation.


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.


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.


Taking CHARGE of Communication --Brandrup, Julie. CHARGE ACCOUNTS, vol. 21, #1, Spring 2011, pp. 6-9. (2011) This is an account by a parent with a young daughter with CHARGE syndrome and the journey taken so far. Available on the web: 


Toileting and Sleep --Williams, George, M.D. Cleveland, OH: Proceedings of the 6th International CHARGE Syndrome Conference, July 25-27th, 2003, Cleveland, OH. (2003) This presentation describes the difficulties that some children with CHARGE syndrome have with sleep and hygiene. Describes The Albany Sleep Problem Scale, and the responses received from this survey. Presents a holistic management plan that incorporates the physiology and disordered patterns of sleep. Also available is a CD-ROM containing an audio version of this presentation.


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


Vision and Vestibular Aspects to CHARGE Syndrome : Implications for Communication, Education, and Assessment --Gloyn, Ann, B.Ph.Ed., B.A., B.Ed. Brantford, Ontario: Canadian Deafblind and Rubella Association. 13th DbI World Conference on Deafblindness Conference Proceedings, August 5-10, 2003, Mississauga, Ontario, Canada. (2003) This is the text of a workshop presentation given at the 13th DbI World Conference on Deaf-Blindness. The paper describes vision and vestibular aspects of CHARGE syndrome.


What the Deaf Blind Have Taught Us About Thinking and Communicating --Withrow, Frank B. EDUCATIONAL TECHNOLOGY AND CHANGE JOURNAL, February 2013. (February 2013) The author of this article was the Director of the Division of Education Services in the Bureau of Education for the Handicapped and administered the deaf blind services at a time when Congress passed a law that created centers for deaf blind services.  He reflects on communication and the possibilities for increased opportunities in the modern world.

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