Cochlear Implantation in Cockayne Syndrome: Our Experience of Two Cases With Different Outcomes

Morris, David P.; Alian, Wael A.; Maessen, Heather; Creaser, Cathy; Demmons‐O'Brien, Stephanie; Wijhe, René Van; Bance, Manohar

doi:10.1097/mlg.0b013e3180325106

Cited by 14 publications

(12 citation statements)

References 8 publications

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“…As a result, many in this group are not suspected of having CS until adulthood and/or after they have visited many physician specialists-if they are diagnosed at all [Inoue et al, 1997;Rapin et al, 2006]. The literature describes mild CS/CS in adults as atypical or rare [Kennedy et al, 1980;Nance and Berry, 1992;Rapin et al, 2006;Morris et al, 2007;Hashimoto et al, 2008], yet the even distribution of severity group membership among survey subjects here (Table I) implies that mild CS may be under-diagnosed.…”

Section: Mild Csmentioning

confidence: 86%

“…The average age of death in the mild group was 30.3 years, with a wide range (survey/literature; Table V) [Crome and Kanjilal, 1971;Brumback et al, 1978;Shemen et al, 1984;Inoue et al, 1997;Rapin et al, 2006;Morris et al, 2007]. A cause of death was identifiable in 6 cases, including 1 from the literature.…”

Section: Fig 2 Patient 2 Very Mildmentioning

confidence: 93%

“…The most severely affected individuals cannot sit independently or talk [Bender et al, 2003;Jaakkola et al, 2010], while those who are very mildly affected may learn to read and write at a third grade level or higher, ski or ride a 1081 bicycle, cook simple meals, or hold a job [Morris et al, 2007]. Others may not be aware that they have the disorder until well into adulthood, if at all [Miyauchi et al, 1994;Miyauchi-Hashimoto et al, 1998].…”

Section: Variation In Phenotypementioning

confidence: 99%

“…Parents reported that post-hearing loss children would become withdrawn and unhappy. In some patients, cochlear implants can improve quality of life and reduce anxiety [Morris et al, 2007].…”

Section: Fig 2 Patient 2 Very Mildmentioning

confidence: 99%

“…Additionally, as has been described extensively, vision and hearing loss are hallmarks of CS. Hearing aids and cochlear implants can be of significant help in improving quality of life after hearing loss [Morris et al, 2007]. Contractures progress to the point where feet turn inward; more rarely, they may cause hip dislocation.…”

mentioning

confidence: 99%

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A comprehensive description of the severity groups in Cockayne syndrome

Natale¹

2011

American J of Med Genetics Pt A

105

109

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Cockayne syndrome (CS) is a rare degenerative disorder with a common set of symptoms but a very wide variation in phenotype. The variation is sufficiently wide that CS patients have traditionally been described in three different severity groups. Unfortunately, there is no single source for information about the different severity groups. This problem can complicate not only diagnosis, but accurate prognosis as well. The goal of this study was to describe the phenotypic variation in CS as completely as possible. This article provides extensive descriptions of traits common to each group and their degree of severity in each group. Forty-five people with CS were surveyed and information from the published literature was used to increase the sample sizes for calculations. This study provides new information, including statistical data for each of the three severity groups (mean age at death, average head circumference, and average length or stature). The study includes cerebro-oculo-facial syndrome (COFS) as a severe form of CS, based on results of recently published genetic studies performed by other authors. This study proposes revised names for CS severity groups: severe, moderate, and mild. The groups were formerly called Type II/early onset CS, Type I/classical CS, and Type III/atypical/mild/late-onset CS, respectively. A fourth newly documented group, UV sensitivity only/adult onset, is also described. Average ages of death were calculated as 5.0 years (severe), 16.1 years (moderate), and 30.3 years (mild).

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Section: Mild Csmentioning

confidence: 86%

Section: Fig 2 Patient 2 Very Mildmentioning

confidence: 93%

Section: Variation In Phenotypementioning

confidence: 99%

Section: Fig 2 Patient 2 Very Mildmentioning

confidence: 99%

mentioning

confidence: 99%

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A comprehensive description of the severity groups in Cockayne syndrome

Natale¹

2011

American J of Med Genetics Pt A

105

109

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Genetic disorders associated with postnatal microcephaly

Seltzer¹,

Paciorkowski²

2014

American J of Med Genetics Pt C

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Several genetic disorders are characterized by normal head size at birth, followed by deceleration in head growth resulting in postnatal microcephaly. Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome). These disorders can be identified clinically by phenotyping across multiple neurodevelopmental and neurobehavioral realms, and enough data are available to recognize these postnatal microcephaly disorders as separate diagnostic entities in their own right. A second diagnostic grouping, comprised of Warburg MICRO syndrome, Cockayne syndrome, and Cerebral-oculo-facial skeletal syndrome, share similar features of somatic growth failure, ophthalmologic, and dysmorphologic features. Many postnatal microcephaly syndromes are caused by mutations in genes important in the regulation of gene expression in the developing forebrain and hindbrain, although important synaptic structural genes also play a role. This is an emerging group of disorders with a fascinating combination of brain malformations, specific epilepsies, movement disorders, and other complex neurobehavioral abnormalities.

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Evidence for a right cochlear implant advantage in simultaneous bilateral cochlear implantation

et al. 2014

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Current preliminary data indicate that children with bilateral CIs implanted simultaneously exhibit a significant right ear advantage for speech. Similarly to reports on normal-hearing children, right ear preference for speech increased with increasing age and auditory-linguistic experience. Thus, simultaneous bilateral cochlear implantation may lead to normal development of auditory pathways and may be an important contributor to the superior auditory, language, and communication skills reported in children with bilateral versus unilateral CIs.

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Cochlear Implantation in Cockayne Syndrome: Our Experience of Two Cases With Different Outcomes

Cited by 14 publications

References 8 publications

A comprehensive description of the severity groups in Cockayne syndrome

A comprehensive description of the severity groups in Cockayne syndrome

Genetic disorders associated with postnatal microcephaly

Evidence for a right cochlear implant advantage in simultaneous bilateral cochlear implantation

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