Otolaryngologic Manifestations of Down Syndrome

Kanamori, Glenn; Witter, M.D.; Brown, Jimmy J.; Williams-Smith, Lorraine

doi:10.1016/s0030-6665(05)70281-4

Cited by 71 publications

(56 citation statements)

References 17 publications

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“…The fact that there was no significant age trend suggests that middle ear disease is almost universal in children with CdLS, and much more common than in children with other craniofacial syndromes [Stenberg et al, 1998;Kanamari et al, 2000;Shott et al, 2001;Dhooge et al, 2005;Herrmann et al, 2005]. The prevalence of otitis media with effusion in our population was about twice that reported by Sataloff et al [1990].…”

Section: Discussioncontrasting

confidence: 47%

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Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

Marchisio

Selicorni

Milani

et al. 2008

American J of Med Genetics Pt A

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The development of children who have syndromes with mental retardation and/or language delay can be worsened by sensorineural or conductive hearing loss (HL). Given the existing scarcity of data, we investigated the prevalence of otitis media with effusion and/or HL in 50 children with Cornelia de Lange syndrome (CdLS) aged 1-18 years, and its impact on the children's performance. The children underwent otological and audiological examinations in order to ascertain the relative frequencies of otitis media with effusion and/or hearing impairment; their demographic and clinical data were obtained by questionnaires and from information in their medical charts. Otitis media with effusion was diagnosed in 94%, and its prevalence was similar in all age groups; HL was detected in 40 children (80%). Conductive HL due to middle ear effusion was the main cause of hearing impairment alone (60%) or in combination with sensorineural deficit (20%). HL had a negative impact on performance regardless of the type. A history of routine audiological and/or otological assessments was reported by a minority of parents. Our findings indicate that otitis media with effusion and/or HL is an important feature of children with CdLS and may negatively affect their performance. Careful follow-up throughout childhood is necessary to detect and treat any hearing loss in children with CdLS in order to minimize its impact on performance.

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Section: Discussioncontrasting

confidence: 47%

“…The otological and audiological features of Down syndrome, Turner syndrome and Nager syndrome have been extensively studied in children with these disorders [Stenberg et al, 1998;Kanamari et al, 2000;Shott et al, 2001;Dhooge et al, 2005;Herrmann et al, 2005], but there are few data regarding Cornelia de Lange syndrome (CdLS).…”

Section: Introductionmentioning

confidence: 99%

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

Marchisio

Selicorni

Milani

et al. 2008

American J of Med Genetics Pt A

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“…These children are prone to have generalized hypotonia and anatomical abnormalities at different sites of the upper airway have been described [23,24]. Supraglottoplasty seems to be less successful in cases of Down syndrome, although no outcome studies have been published.…”

Section: Discussionmentioning

confidence: 99%

Management of laryngomalacia in children with congenital syndrome: The role of supraglottoplasty

Escher

Probst

Gysin

2015

Journal of Pediatric Surgery

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BACKGROUND/IMPORTANCE: Supraglottoplasty is the surgical procedure of choice for severe laryngomalacia and has shown to be successful in most cases; however, patients with medical comorbidities present a higher rate of failure. To date, the best management of laryngomalacia in children with congenital syndrome remains unclear. PURPOSE: To study the outcome of supraglottoplasty in children with severe laryngomalacia, and to analyze the management and outcome in infants with a congenital syndrome. METHODS: Retrospective medical records review from January 2003 to October 2012 of all patients who underwent laser supraglottoplasty for severe laryngomalacia at the University Children's Hospital Zurich, Switzerland. RESULTS: Thirty-one patients were included; median age at time of surgery was 3.5 months. Three patients (10%) had a genetically proven congenital syndrome with associated neurologic anomalies. Overall success rate was 87%. Failures were observed in four (13%) of 31 cases; including all three patients presenting a congenital syndrome. CONCLUSIONS: Supraglottoplasty is an effective and safe treatment for laryngomalacia in otherwise healthy children. Signs of a possible underlying predominant neurologic origin and discrepancy between the clinical presentation and the endoscopic findings have to be taken into account, as in children with congenital syndrome with neurologic anomalies the risk of failure is higher.

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“…The frequency in the general population is approximately 1 in 700 [1]. In 93-96% of the individuals the chromosome consistency is an extra chromosome 21, whereas 2-3% occurs due to mosaicism.…”

Section: Introductionmentioning

confidence: 99%

Cytogenetic Profiles of 1213 Children with Down Syndrome in South Region of Turkey

Demırhan

TanrÄ±verdi²,

Süleymanova³

et al. 2014

J Mol Genet Med

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Down syndrome (DS) is a complex disorder characterized by well-defined and distinctive phenotypic features. Different karyotypes are associated with varying phenotypic expression of DS. The type of karyotypes in the children with DS plays an important role in genetic diagnosis and family counselling. This study describes the characteristics of karyotypes leading to phenotypic Down syndrome in 1213 cases diagnosed between 1992 and 2009 in South Region of Turkey. The frequency of occurrence of the different karyotypes was analyzed. The karyotype results were normal in 9.1% of all cases. However, chromosomal abnormalities (CAs) were detected in nearly 91% of all cases. The free trisomy 21 was the most common karyotype (nearly 93% of all cases). The ration of mosaic trisomy 21 was 2.5%. The CAs in addition to trisomy 21 was present in 1.5% of cases. The ratio of Robertsonian and reciprocal translocations in these variants were 2.3% and 0.3%, respectively. The ration of other variants was nearly 1%. This study showing the frequency and distribution of karyotypes causing DS, are the great value to be gleaned from studies of DS patients in furthering our understanding of the atypical clinical features associated with DS. These cytogenetic investigations carried out greatly helped in the management of these children and for counseling the affected families.

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Otolaryngologic Manifestations of Down Syndrome

Cited by 71 publications

References 17 publications

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

Management of laryngomalacia in children with congenital syndrome: The role of supraglottoplasty

Cytogenetic Profiles of 1213 Children with Down Syndrome in South Region of Turkey

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