Deaf Siblings Research Articles

Demographics Affecting Parental Expectations from Early Deaf Intervention

Parent participation in rehabilitation programs for children with special needs requires program designers to accommodate each family's particular needs and characteristics.This study investigated maternal reports on various characteristics of 50 Israeli deaf preschoolers, their parents, and families, and examined these characteristics' links with mothers' expectations from early intervention. Characteristics linked with maternal expectations from intervention included: mother's pessimism, need for independence, ability to control her life, and receipt of practical assistance and formal and informal support; family's degree of communication and interaction; children's communication mode and age at onset of treatment; and additional deaf siblings in the family. A four-cluster model depicts the relations between mothers', families', and deaf children's attributes and the mothers' expectations, entailing recommendations for intervention planning. Copyright © 2009 John Wiley & Sons, Ltd.

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

We studied a consanguineous family (Family A) from the island of Newfoundland with an autosomal recessive form of prelingual, profound, nonsyndromic sensorineural hearing loss. A genome-wide scan mapped the deafness trait to 10q21-22 (max LOD score of 4.0; D10S196) and fine mapping revealed a 16 Mb ancestral haplotype in deaf relatives. The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause Usher syndrome type IF (USH1F) and two missense mutations have been previously associated with isolated deafness (DFNB23). Sequencing of the PCDH15 gene revealed 33 sequencing variants. Three of these variants were homozygous exclusively in deaf siblings but only one of them was not seen in ethnically matched controls. This novel c.1583 T>A transversion predicts an amino-acid substitution of a valine with an aspartic acid at codon 528 (V528D). Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). Physical assessment, vestibular and visual function testing in deaf adults ruled out syndromic deafness because of Usher syndrome. This study validates the DFNB23 designation and supports the hypothesis that missense mutations in conserved motifs of PCDH15 cause nonsyndromic hearing loss. This emerging genotype-phenotype correlation in USH1F is similar to that in several other USH1 genes and cautions against a prognosis of a dual sensory loss in deaf children found to be homozygous for hypomorphic mutations at the USH1F locus.

Pendred Syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene

Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia. Mutations in the gene that encodes pendrin (SLC26A4), a chloride/iodide transporter, have been shown to be associated with PS. We describe the clinical and molecular characteristics of a large consanguineous family harboring a mutation in the SLC26A4 gene. The proband was a 26-year-old deaf Brazilian woman who presented a bulky multinodular goiter and hypothyroidism since puberty. Five other siblings were deaf: one brother had a similar phenotype, three siblings also had goiters but normal thyroid function tests, and one brother had only a subtle thyroid enlargement. Other 4 siblings had no thyroid or hearing disorder. Parents were first degree cousins and had normal hearing. The mother was healthy, except for subclinical hypothyroidism; the father was deceased. A perchlorate test in the proband showed a discharge of 21% of the incorporated iodide 2h after the administration of 1g of KClO4. Audiological examinations showed profound hearing loss in all deaf subjects; CT and MRI of the temporal bones showed EVA in all of them. Genomic DNA was isolated from whole blood, from the 6 affected and 4 unaffected siblings, the mother and control. The coding region of the PDS gene (exons 2-21), including exon/intron boundaries, were amplified by PCR and sequenced. A single base-pair (T) deletion at position 1197 of exon 10 was detected in homozygous state in the 6 deaf siblings. The mother and 2 unaffected siblings were heterozygous for this mutation, which has been described by Everett et al. The 1197delT mutation is predicted to result in a frameshift and a truncated protein. The existence of PS phenocopies and intrafamilial phenotypic variability are well documented. The definite diagnosis requires molecular analysis. Our study illustrates the value and challenges of mutational analysis in selected patients with PS.

Shattering the Hearing Wall

Shattering the Hearing Wall

Consanguinity and deafness in Omani children

This study was based on a national retrospective analysis of 1400 questionnaires on the causes of deafness in Omani children, collected from 1986 to 2000. It was found that 70% of the deaf children were from parents of consanguineous marriages, and 30% from non-consanguineous unions. In those with consanguineous families 70.16% were first cousin marriages, 17.54% were second cousins, and 10.86% were from the same tribe. The proportion arising from first cousin marriages was higher than the background rate of first cousin marriages in Oman. In the total cohort, 45% had other family members with hearing loss. There was a greater chance of other relatives being affected in the consanguineous group as opposed to the non-consanguineous group (29.7% versus 15.3%). In most cases the affected relative was a deaf sibling (67.8%). We have demonstrated a higher rate of consanguinity amongst parents of deaf children in Oman and suggest this is associated with a higher frequency of autosomal recessive deafness in this paediatric population.

Audrey’s Story and an Update on Maggie

Audrey’s Story and an Update on Maggie

Exploring the impact on hearing children of having a deaf sibling

AbstractThe impact on hearing children of having a deaf sibling is an area of research that has often been neglected. Existing research in this field has typically concluded that the impact these deaf children have on their hearing siblings is either positive or negative. However, this study demonstrates that the picture may be more complex than this. In this study, six hearing siblings were interviewed retrospectively about their experiences of growing up with a deaf brother/sister. Throughout the respondents' accounts one connecting theme was found, the idea of simultaneous versions of reality; respondents integrated two seemingly inconsistent, yet equally valid versions of reality as a way of recounting and making sense of their experience of growing up with a deaf sibling.

Exploring the impact on hearing children of having a deaf sibling

The impact on hearing children of having a deaf sibling is an area of research that has often been neglected. Existing research in this field has typically concluded that the impact these deaf children have on their hearing siblings is either positive or negative. However, this study demonstrates that the picture may be more complex than this. In this study, six hearing siblings were interviewed retrospectively about their experiences of growing up with a deaf brother/sister. Throughout the respondents' accounts one connecting theme was found, the idea of simultaneous versions of reality; respondents integrated two seemingly inconsistent, yet equally valid versions of reality as a way of recounting and making sense of their experience of growing up with a deaf sibling.

Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness.

To assess the level of a cohort of pediatric otolaryngologists' knowledge and understanding of genetics and genetic testing for deafness and hard of hearing (D/HOH). A questionnaire was designed to assess the level of knowledge and understanding of the genetic basis and genetic testing for deafness among a cohort of pediatric otolaryngologists. Three hundred questionnaires were made available to attendees of the 14th (1999) Annual Meeting of the American Society of Pediatric Otolaryngology, Palm Desert, Calif. A series of questions asked to gauge the respondent's level of knowledge of genetics and hearing impairment addressed estimating recurrence risks for deaf and normal-hearing parents and the likelihood of detecting a mutation in connexin 26 in specific clinical scenarios. A total of 28 questionnaires were completed and returned. All respondents reported that they regularly saw patients for D/HOH. Almost half commonly refer these patients for genetic testing and counseling. Seventeen (71%) of 24 otolaryngologists stated they offered genetic testing in all situations, while 6 offered counseling only at parental request or to address recurrence risk issues. One otolaryngologist offered genetic testing if there was a deaf sibling. Twelve (67%) of 18 offered pretest counseling, which was most frequently provided by a genetic counselor. Although 3 (19%) of 16 otolaryngologists provided the counseling themselves, 2 (13%) reported that they and a genetic counselor provided the counseling. While 24 (89%) of the 27 correctly stated that nonsyndromic D/HOH is usually autosomal recessive, recurrence risks were incorrectly estimated in several examples. While the surveyed pediatric otolaryngologists have a good knowledge of genetics and genetic testing for D/HOH, recurrence risks were often inaccurate. Since D/HOH testing is clinically available, it is imperative that physicians are educated about genetics and genetic testing and are able to communicate this to their patients and their patients' families.

The self-esteem and cohesion to family members of deaf children in relation to the hearing status of their parents and siblings

We examined whether for deaf children, the hearing status of both parents and siblings would have an effect on self-esteem ratings and perceived cohesion with family members. Forty-five deaf children (with deaf parents/deaf siblings; deaf parents/hearing siblings; hearing parents/deaf siblings and hearing parents/hearing siblings) participated. Deaf children with deaf parents had higher self-esteem than those with hearing parents. There was no main effect of sibling hearing status. There were main effects of cohesion scores for all family members; deaf children felt closer to deaf parents and deaf siblings than to hearing parents and hearing siblings. The quantitative findings are discussed and interpreted with the help of qualitative data from interviews with the children.

The self-esteem and cohesion to family members of deaf children in relation to the hearing status of their parents and siblings

Abstract We examined whether for deaf children, the hearing status of both parents and siblings would have an effect on self-esteem ratings and perceived cohesion with family members. Forty-five deaf children (with deaf parents/deaf siblings; deaf parents/hearing siblings; hearing parents/deaf siblings and hearing parents/hearing siblings) participated. Deaf children with deaf parents had higher self-esteem than those with hearing parents. There was no main effect of sibling hearing status. There were main effects of cohesion scores for all family members; deaf children felt closer to deaf parents and deaf siblings than to hearing parents and hearing siblings. The quantitative findings are discussed and interpreted with the help of qualitative data from interviews with the children.

My First Book of Sign , and: I can Sign My ABCs (review)

REVIEWS Growing Together: Information for Parents of Hearing-Impaired Children, National Information Center on Deafness, approximately 98 pp. of resource materials and topic sheets, $6 paperback, Gallaudet University, 800 Florida Avenue NE, Washington, D.C. 20002,1987. This compilation of resource materials and topic sheets is the result of a joint project of the National Information Center on Deafness and the Center for Curriculum Development , Training and Outreach, both at Gallaudet University. Prefaced with a letter to parents and a table of contents, this packet addresses communicative, educational, legal, medical and social issues associated with being the parent of a deaf child. The information is factually correct, written dispassionately in easily understandable language. Some of the resource materials are geared toward children, which can be useful for parents helping their other children understand a deaf sibling. The topic sheets are in a question and answer format, featuring the questions which parents of deaf children ask most commonly. The fact sheets can be ordered separately at low or no cost, also, and an order form is included . This material, as a package, is an excellent resource for families who have a recently diagnosed deaf child and for beginning counselors-and teachers-in-training, although it is primarily written for "new" parents. The fact sheets for children could also become a helpful resource for deaf awareness in integrated classrooms. C. lane Akamatsu, Ph.D. Assistant Professor Michigan State University East Lansing, Michigan Sexual Abuse! What Is It? Alice LaBarre, Karen R. Hinkley and Mary F. Nelson, 71 pp., $6.95 plus postage paperback, St. Paul-Ramsey Foundation, 640 Jackson Street, St. Paul, Minnesota 55101,1986. This easy-to-understand explanation of sexual abuse should be read by every hearing-impaired person. The vocabulary is accurate and comprehensive. Clear pictures amplify the straight-forward message: "Sexual abuse hurts people and is against the law." Sexual Abuse! What Is It? was written by counselors at the Hearing Impaired Health and Wellness Services of the St. Paul-Ramsey Medical Center and has been used in therapy with clients who know the emotional and physical pain of sexual abuse. The authors, in welcoming readers, express hope that the information included in this manual will keep hearing-impaired people safe and help prevent sexual abuse. This book merits wide distribution. My deaf daughter reviewed the manual with me. Together we highly recommend this excellent explanation of a problem that must not be ignored. Sexual Abuse! What Is It? should be widely read. It clearly says: Sexual abuse is wrong and need not be tolerated. It belongs in every school library and the home of everyone who cares about a child or adult who is hearing impaired. Bonnie Fairchild American Society for Deaf Children Wilmington, Delaware and Joyce Gairns Student Gallaudet University Washington, D.C. My First Book oÃ- Sign, Pamela J. Baker, 76 pp., $12.95 hardcover , Kendall Green Publications, Gallaudet University Press, and I can Sign My ABCs, Susan Gibbons Chaplin, 52 pp., $8.95 hardcover, 800 Florida Avenue NE, Washington, D.C. 20002. In My First Book of Sign by Pamela Baker and J Can Sign My ABCs by Susan Gibbons Chaplin, the reader will find a toddler 's introduction to sign language and the manual alphabet . My First Book of Sign is imaginatively illustrated by Patricia Gillen, a rarity among sign dictionaries. Another delight is the particular care Ms. Baker took in choosing vocabulary words that are frequently used in communication between young children and their parents. This book contains an easily understood index to clarify sign and fingershape discriptions . Õ Can Sign My ABCs by Susan Gibbons Chaplin is a "just for beginners" book pictorially illuminating the manual alphabet . One word and its sign are portrayed with each letter of the alphabet. All of the illustrations by Laura McCaul are brightly colored to attract the curious toddler and preschooler . Of particular help is the handshape format which is the same size as the human hand. This allows beginning signers to form and correct their manual alphabet with ease. Both books would be an asset to any young child beginning to sign, plus the families, neighbors and friends of any hearing -impaired youngster. Mary Lynn...

More on the effects of early manual communication on the cognitive development of deaf children.

Three groups of Israeli deaf children ages 6 to 14 and a group of hearing children were compared on intelligence. The three deaf groups were (a) 23 deaf children with deaf parents and deaf siblings (DpDs)—heredity as cause of deafness, manual environment; (b) 76 deaf children with hearing parents and deaf siblings (HpDs)—heredity, partial manual environment; and (c) 144 deaf children with hearing parents and siblings (HpHs)—no heredity, oral environment. Three measures of cognitive development were used: teachers' evaluations, the Draw-a-Person Test, and the Snijders-Oomen Non-Verbal Test. The DpDs children were superior to other deaf children and comparable to hearing children on most intelligence measures. Results showed that the manual environment factors, and not heredity, are responsible for the cognitive superiority of deaf children of deaf parents.

Nonverbal intelligence and verbal achievement in deaf adolescents: an examination of heredity and environment.

The present study assessed the differences in intelligence and achievement of deaf adolescents from three family constellations: (a) 19 deaf children with deaf parents (dc/dp), (b) 19 controls with hearing parents and hearing siblings matched to the dc/dp group (dc/hp 1), (c) 20 deaf children with deaf siblings and hearing parents (dc/ds), and (d) 20 deaf controls with hearing parents and hearing siblings matched to the dc/ds group (dc/hp 2). Subjects were matched on 16 variables to control for extraneous factors. Dependent variables included nonverbal intelligence, vocabulary achievement, reading comprehension, language achievement, and sign language experience. The results indicated that the relationships of nonverbal intelligence, verbal achievement, and early sign language are more complex than was apparent in past studies.

Audiogram Studies in Deaf Siblings

Audiogram Studies in Deaf Siblings