Bilateral Cochlear Implants: Maximizing Expected Outcomes.

CASE: Sonia is a 4 years 1 month-year-old girl with Waardenburg syndrome and bilateral sensorineural hearing loss who had bilateral cochlear implants at 2 years 7 months years of age. She is referred to Developmental-Behavioral Pediatrics by her speech/language pathologist because of concerns that her language skills are not progressing as expected after the cochlear implant. At the time of the implant, she communicated using approximately 20 signs and 1 spoken word (mama). At the time of the evaluation (18 months after the implant) she had approximately 70 spoken words (English and Spanish) and innumerable signs that she used to communicate. She could follow 1-step directions in English but had more difficulty after 2-step directions.Sonia was born in Puerto Rico at 40 weeks gestation after an uncomplicated pregnancy. She failed her newborn hearing test and was given hearing aids that did not seem to help.At age 2 years, Sonia, her mother, and younger sister moved to the United States where she was diagnosed with bilateral severe-to-profound hearing loss. Genetic testing led to a diagnosis of Waardenburg syndrome (group of genetic conditions that can cause hearing loss and changes in coloring [pigmentation] of the hair, skin, and eyes). She received bilateral cochlear implants 6 months later.Sonia's mother is primarily Spanish-speaking and mostly communicates with her in Spanish or with gestures but has recently begun to learn American Sign Language (ASL). In a preschool program at a specialized school for the deaf, Sonia is learning both English and ASL. Sonia seems to prefer to use ASL to communicate.Sonia receives speech and language therapy (SLT) 3 times per week (90 minutes total) individually in school and once per week within a group. She is also receiving outpatient SLT once per week. Therapy sessions are completed in English, with the aid of an ASL interpreter. Sonia's language scores remain low, with her receptive skills in the first percentile, and her expressive skills in the fifth percentile.During her evaluation in Developmental and Behavioral Pediatrics, an ASL interpreter was present, and the examiner is a fluent Spanish speaker. Testing was completed through a combination of English, Spanish, and ASL. Sonia seemed to prefer ASL to communicate, although she used some English words with errors of pronunciation. On the Beery Visual-Motor Integration Test, she obtained a standard score of 95. Parent and teacher rating scales were not significant for symptoms of attention-deficit/hyperactivity disorder.What factors are contributing to her slow language acquisition and how would you modify her treatment plan?

Waardenburg-Shah Syndrome: a rare case in an Indian child.

A 7-year-old male child presented with a history of discolouration of right eye since birth. On examination visual acuity was 6/6 on Snellen's chart in both eyes; anterior segment was within normal limits except for the brilliant blue discolouration of the inferior quadrant and superior quadrant of right iris and left eye iris, respectively. Both eyes had a clear lens and fundus findings were within normal limits. A detailed history from parents revealed that the child had difficulty in hearing and slurring of speech. In addition, the child had repeated episodes of constipation with bilious vomiting during infancy for which a diagnosis of fungal sepsis with Hirschsprung's disease was made and the child had to undergo a mid-sigmoid loop colostomy for that. A diagnosis of Waardenburg--Shah Syndrome was made and the child was referred for hearing and speech rehabilitation.

Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome.

OBJECTIVE: To analyse the benefit of cochlear implantation in young deaf children with Waardenburg syndrome (WS) compared to a reference group of young deaf children without additional disabilities. METHOD: A retrospective study was conducted on children with WS who underwent cochlear implantation at the age of 2 years or younger. The post-operative results for speech perception (phonetically balanced standard Dutch consonant-vocal-consonant word lists) and language comprehension (the Reynell Developmental Language Scales, RDLS), expressed as a language quotient (LQ), were compared between the WS group and the reference group by using multiple linear regression analysis. RESULTS: A total of 14 children were diagnosed with WS, and 6 of them had additional disabilities. The WS children were implanted at a mean age of 1.6 years and the 48 children of the reference group at a mean age of 1.3 years. The WS children had a mean phoneme score of 80% and a mean LQ of 0.74 at 3 years post-implantation, and these results were comparable to those of the reference group. Only the factor additional disabilities had a significant negative influence on auditory perception and language comprehension. CONCLUSIONS: Children with WS performed similarly to the reference group in the present study, and these outcomes are in line with the previous literature. Although good counselling about additional disabilities concomitant to the syndrome is relevant, cochlear implantation is a good rehabilitation method for children with WS.

Cochlear implant rehabilitation outcomes in Waardenburg syndrome children.

OBJECTIVES: The purpose of this study was to review the outcomes of children with documented Waardenburg syndrome implanted in the ENT Department of Centro Hospitalar de Coimbra, concerning postoperative speech perception and production, in comparison to the rest of non-syndromic implanted children. METHODS: A retrospective chart review was performed for children congenitally deaf who had undergone cochlear implantation with multichannel implants, diagnosed as having Waardenburg syndrome, between 1992 and 2011. Postoperative performance outcomes were assessed and confronted with results obtained by children with non-syndromic congenital deafness also implanted in our department. Open-set auditory perception skills were evaluated by using European Portuguese speech discrimination tests (vowels test, monosyllabic word test, number word test and words in sentence test). Meaningful auditory integration scales (MAIS) and categories of auditory performance (CAP) were also measured. Speech production was further assessed and included results on meaningful use of speech Scale (MUSS) and speech intelligibility rating (SIR). RESULTS: To date, 6 implanted children were clinically identified as having WS type I, and one met the diagnosis of type II. All WS children received multichannel cochlear implants, with a mean age at implantation of 30.6±9.7months (ranging from 19 to 42months). Postoperative outcomes in WS children were similar to other nonsyndromic children. In addition, in number word and vowels discrimination test WS group showed slightly better performances, as well as in MUSS and MAIS assessment. CONCLUSIONS: Our study has shown that cochlear implantation should be considered a rehabilitative option for Waardenburg syndrome children with profound deafness, enabling the development and improvement of speech perception and production abilities in this group of patients, reinforcing their candidacy for this audio-oral rehabilitation method.

Cochlear implantation in children with Waardenburg syndrome.

Waardenburg syndrome is an autosomal-dominant trait resulting from mutations occurring in different genes. It is often characterized by varying degrees of: congenital hearing loss; dystopia canthorum; synophrys; broad nasal root; depigmentation of hair (white forelock), skin or both; and heterochromic or hypochromic irides. A retrospective case study was done to assess speech perception, speech production, general intelligence and educational setting in six profoundly hearing-impaired children with Waardenburg syndrome (four with type I, one with type II and one with type III) ranging in age from two years to 14 years, seven months (mean = six years, six months). None of the patients had malformation of the cochlea and were implanted using Nucleus 22/24 and Med-el combi40+. Five out of the six cases were of average intelligence and one had a borderline intelligence quotient. The follow-up period ranged from one year, 10 months to six years, six months (mean = three years, six months) after implantation. The evaluation of auditory perception in patients was accomplished using the Persian Auditory Perception Test for the Hearing-Impaired, a Persian Spondee words test and the Categories of Auditory Performance Index. The Speech Intelligibility Rating test was used to evaluate speech production ability. All the patients' speech perception and speech intelligibility capabilities improved considerably after receiving the implants, and they were able to be placed in regular educational settings. Patients used their cochlear-implant devices whenever awake, implying that they benefitted from the devices. We suggest that any further expansion of cochlear-implantation criteria in children include those with Waardenburg syndrome.

Síndrome de Waardenburg (S.W.) (distopía cantorum) (displasia interoculo irido dermato auditiva) / Waardernburg syndrome: report of case

The Waardenburg syndrome is a rare genetical disease characterized by skeletal and facial alterations. In this report we present a case of 15 years old girl bearing this syndrome, who was subjected to orthodontic, phonoaudiologic and kinesiologic studies in order to give her a consistent oral rehabilitation and preventive treatment