Audiological profile of individuals with Cornelia de Lange syndrome: an integrative review

Santos, Nayara Pereira; Silva, Liliane Aparecida Fagundes; Kim, Chong Ae; Matas, Carla Gentile

doi:10.1590/1982-0216/20222462821

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REVIEW ARTICLES • Rev. CEFAC 24 (6) • 2022 • https://doi.org/10.1590/1982-0216/20222462821 copy

Audiological profile of individuals with Cornelia de Lange syndrome: an integrative review

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

Purpose:

to describe the audiological profile of patients with Cornelia de Lange syndrome (CdLS) in an integrative review of the literature.

Methods:

after developing the research question, articles were searched in six databases (EMBASE, ISI of Knowledge, LILACS, MEDLINE/PubMed, SciELO, and Scopus) and in sources of information (Google Scholar, OpenGrey, and ProQuest), with the following descriptors: audiology, hearing loss, deafness, hearing disorders, and Cornelia de Lange syndrome. This review was registered in Prospero under number CRD42020191481. National and international studies were considered for analysis, using the PECO acronym. The risk of bias in the studies was analyzed with Joanna Briggs Institute protocols. Then, the studies were described and analyzed.

Results:

of the 1,080 articles found, 12 met the inclusion criteria. Audiological results showed that individuals with CdLS can have hearing loss - conductive hearing losses were the most frequent impairments, corresponding to 49.20% of individuals with CdLS assessed, followed by sensorineural hearing losses (13.49%). The degrees of hearing loss ranged from mild to profound.

Conclusion:

individuals presented with CdLS often have hearing loss, mainly due to middle ear changes, with degrees ranging from mild to profound.

Keywords:
Audiology; Hearing Loss; Brainstem Auditory Evoked Potentials; Cornelia de Lange Syndrome

Reference	Country of origin	Type of study	Sample			CdLS diagnostic criteria	Audiological procedures	Normal criteria
Reference	Country of origin	Type of study	Size	Sex	Age range	CdLS diagnostic criteria	Audiological procedures	Normal criteria
Chowdhury et al., 2016²⁷	India	Case report	1	M	8 years	Specific phenotypical characteristics of the syndrome	Acoustic immittance, PTA, DPOAE, BAEP	NS
Egelund., 1987²⁴	Denmark	Case report	2	1 M; 1 F	Approximately: (M) - 19 years; (F) - 10 years	Specific phenotypical characteristics of the syndrome	Acoustic immittance, PTA, BAEP	NS
Ichiyama et al., 1994²⁵	Japan	Case report	2	2 M	(1): NS; (2): 2 years	Specific phenotypical characteristics of the syndrome	BAEP	NS
Janek et al., 2016³⁰	United States	Cross-sectional observational	78	39 M; 39 F	7 months to 50 years	NS	PTA	Mild (21-40 dB); moderate (41-65 dB); severe (65-90 dB); profound (> 90 dB)
Jung et al., 2016⁹	Korea	Cross-sectional observational	32	12 M; 20 F	0 to 10 years	NS	Acoustic immittance, BAEP	BAEP worst ear ET: mild 25-40; moderate 40-55; moderate/severe 55-70; severe 70-90; profound >90
Kaga et al., 1995³¹	Japan	Case series	10	5 M; 5 F	7 months to 14 years	Specific phenotypical characteristics of the syndrome	PTA, BAEP	NS
Kim et al., 2008⁸	Korea	Case series	10	4 M; 6 F	7 months to 8 years	NS	PTA, BAEP	PTA up to 25 dB and BAEP with ET up to 40 dBnHL
Marchisio et al., 2008¹⁰	Italy	Cross-sectional observational	50	23 M; 27 F	1 to 18 years	Each child confirmed by a geneticist specializing in this syndrome	Acoustic immittance, PTA, BAEP	PTA: discrete (21-25 dB); mild (26-40 dB); moderate (41-65 dBHL) or severe (65-90 dBHL); Acoustic immittance Jerger, 1970.
Marchisio et al., 2014²⁹	Italy	Cross-sectional observational	44	22 M; 22 F	1 to 17 years	Clinical signs and symptoms and genetic tests (NIPBL and SMC1A gene detection)	Acoustic immittance, PTA, BAEP	PTA: discrete (21-25 dB); mild (26-40 dB); moderate (41-65dBHL) or severe (65-90 dBHL); Acoustic immittance Jerger, 1970.
Sakai et al., 2002³²	Japan	Case series	13	6 M; 7 F	3 months to 4 years	Extensive genetic assessment for confirmation	PTA, BAEP	NS
Oikawa et al., 2015²⁸	Japan	Longitudinal case report	1	M	1 month	Characteristics of the syndrome	PTA, DPOAE, BAEP	NS
Oliveira de et al., 2009²⁶	Brazil	Case report	1	F	8 years and 7 months	Genetic assessment and observation of facial anomalies	Acoustic immittance, OAE, BAEP	NS

Reference	Results
	Acoustic immittance measures	Incidence of HL	PTA		OAE	BAEP
	Acoustic immittance measures	Incidence of HL	Type of HL	Degree of HL	OAE	BAEP
Chowdhury et al., 2016²⁷	Bilateral type B	100% (case study)	CHL	Mild (mean 36.6 dB in RE and 33.3 dB in LE)	NS	Click BAEP at 40 dBnHL ET (AC) and up to 20 dBnHL (BC)
Egelund., 1987²⁴	M: bilateral type A and pres. reflexes; F: bilateral type A	100% (both subjects had HL)	SNHL	Mild	NP	M: NP; F: bilateral SNHL. ET in RE at 55 dB
Ichiyama et al., 1994²⁵	NP	100% (both subjects had HL)	NP		NP	(1): abs. responses at 100 dBnHL. (2): wave I and interpeak interval I-V with normal lat. ET at 40 dBHL
Janek et al., 2016³⁰	NP	67%	33.3% SNHL 33.3% CHL 33.3% MHL	17.6% mild 29.4% moderate 29.4% severe 23.5% profound	NP	NP
Jung et al., 2016⁹	Measured in 14 subjects: 13 type B; 1 bilateral type A	81.2%	NP		NP	18.8% NL; 6.3% mild HL; 15.6% moderate HL; 31.3% moderate/severe; 12.5% severe; 15.6% profound
Kaga et al., 1995³¹	NP	100%	NS	10% moderate 90% profound	NP	80% abnormal BAEP: 40% bilateral severe HL, 20% unilateral severe HL, 20% bilateral mild HL
Kim et al., 2008⁸	NP	60%	Performed in 2 patients: 1 CHL and 1 NL	Mild	NP	10% mild 10% profound 40% various degrees
Marchisio et al., 2008¹⁰	NS	80%	10 subjects (20%) MHL 30 subjects (60%) CHL	MHL: Discrete in 1 (23 dB); mild in 4 (23-33 dB), moderate in 4 (52-60 dB), severe in1 (65 dB); CHL: Discrete in 11 (21-24 dB); mild in 16 (21-38 dBHL), moderate in 3 subjects (45-50 dBHL)	NP	NS
Marchisio et al., 2014²⁹	NS	81.8%	SNHL = 22.7% CHL = 59.1%	45.4% = discrete/mild 36.4% = moderate/severe	NP	NS
Sakai et al., 2002³²	NP	100%	NS	Moderate to severe HL = 100%	NP	46.15% - abs. responses (33.3% = pres. responses in subsequent years); 15.38% - bilateral pres. responses; 23.07% = unilateral abs. responses; 15.38% wave V abs. in 1 ear, BAEP NL in the other
Oikawa et al., 2015²⁸	NP	100%	SNHL	Moderate HL, improving over time. Final assessment with a mean 0.5, 1, and 2 kHz between 20 and 35 dB	1st month: DPOAE = abs. in RE and pres. in LE; 2nd month: DPOAE = pres. in RE and abs. in LE	BAEO ET at 3 months = 70 dB/RE and 70 dB/LE; 8 months - 70 dB/RE and 60 dB/LE; 1 year - 50 dB/RE and 60 dB/LE; 4 years and 1 month: BAEP NL
Oliveira de et al., 2009²⁶	Bilateral type B and abs. reflexes	100%	NP		TEOAE and DPOAE = bilaterally abs.	BAEP ET: RE = 80 dBnHL and LE = 80/90 dBnHL; BAEP with bilaterally increased absolute lat. and normal interpeak intervals

	Egelund, 1987²⁴	Ichiyama et al., 1994²⁵	Oliveira de et al., 2009²⁶	Oikawa et al., 2015²⁸	Choudhury et al., 2016²⁷
1. Were patient’s demographic characteristics clearly described?	Y	Y	Y	N	Y
2. Was the patient’s history clearly described and presented as a timeline?	Y	Y	Y	Y	Y
3. Was the current clinical condition of the patient on presentation clearly described?	UC	UC	Y	Y	Y
4. Were diagnostic tests or assessment methods and the results clearly described?	Y	Y	N	N	Y
5. Was the intervention(s) or treatment procedure(s) clearly described?	UC	NA	NA	NA	UC
6. Was the post-intervention clinical condition clearly described?	N	NA	NA	Y	NA
7. Were adverse events (harms) or unanticipated events identified and described?	NA	NA	NA	NA	NA
8. Does the case report provide takeaway lessons?	UC	Y	Y	Y	Y

	Marchisio et al., 2008¹⁰	Marchisio et al., 2014²⁹	Janek et al., 2016³⁰	Jung et al., 2016⁹
1. Were the criteria for inclusion in the sample clearly defined?	Y	Y	Y	Y
2. Were the study subjects and the setting described in detail?	Y	Y	Y	Y
3. Was the exposure measured in a valid and reliable way?	Y	Y	Y	Y
4. Were objective, standard criteria used for measurement of the condition?	Y	Y	Y	Y
5. Were confounding factors identified?	Y	Y	UC	UC
6. Were strategies to deal with confounding factors stated?	Y	Y	N	Y
7. Were the outcomes measured in a valid and reliable way?	Y	Y	Y	Y
8. Was appropriate statistical analysis used?	Y	Y	NA	Y

	Kaga et al., 1995³¹	Kim et al., 2008⁸	Sakai et al., 2002³²
1. Were there clear criteria for inclusion in the case series?	N	N	S
2. Was the condition measured in a standard, reliable way for all participants included in the case series?	S	S	S
3. Were valid methods used for identification of the condition for all participants included in the case series?	S	S	NC
4. Did the case series have consecutive inclusion of participants?	NA	NA	N
5. Did the case series have complete inclusion of participants?	S	S	S
6. Was there clear reporting of the demographics of the participants in the study?	S	NC	S
7. Was there clear reporting of clinical information of the participants?	S	NC	S
8. Were the outcomes or follow up results of cases clearly reported?	S	S	NC
9. Was there clear reporting of the presenting site(s)/clinic(s) demographic information?	NA	NA	NA
10. Was statistical analysis appropriate?	NA	NA	NA

Databases	Descriptors
Embase https://www.embase.com/#search	(‘audiology’/exp OR ‘hearing impairment’/exp OR ‘hearing disorder’/exp) AND ‘de lange syndrome’/exp
ISI of Knowledge http://apps.webofknowledge.com	TÓPICO: ((audiolog* OR hearing loss OR deaf* OR hearing disorder*) AND (de lange syndrome))
Lilacs https://lilacs.bvsalud.org/	(audiolog) OR (hearing loss) OR (deaf) OR (hearing disorder*) AND (de lange syndrome)
PubMed-Medline http://www.ncbi.nlm.nih.gov/pubmed	(((((audiolog[Mesh]) OR «hearing loss»[Mesh]) OR deaf[Mesh])) OR hearing disorder*[Mesh]) AND «de lange syndrome»[Mesh]
SciELO https://scielo.org/	EN: (audiolog$) OR (hearing loss) OR (deaf$) OR (hearing disorder$) AND (de lange syndrome) PT: (audiolog$) OU (perda auditiva) OU (surdez) OU (transtornos da audição) E (Síndrome de Cornélia de Lange)
Scopus https://www.scopus.com/	((audiolog$) OR (hearing loss) OR (deaf$) OR (hearing disorder$) AND (de lange syndrome))
Sources of information	Descriptors
Google Scholar https://scholar.google.com.br/?hl=pt	audiology («hearing loss» OR deafness OR «hearing disorders») AND «de lange syndrome»
OpenGrey http://www.opengrey.eu/	«audiolog» OR «hearing loss» OR «deaf» OR «hearing disorder*» AND «de lange syndrome»
Proquest https://www.proquest.com/	(((((audiolog) OR «hearing loss») OR deaf)) OR hearing disorder*) AND «de lange syndrome»

Reference	Reason for exclusion
1. Eliason MJ, Melzer JM, Gallagher TQ. Cornelia de Lange syndrome: what every otolaryngologist should know. Ear, Nose & Throat Journal. 2017;96(8):E6-E9.	Not meeting the study objective
2. Hamilton J, Clement WA, Kubba H. Otolaryngological presentations of Cornelia de Lange syndrome. Int. J. Pediatr. Otorhinolaryngol. 2014;78(9):1548-50.	Unspecific methodology
3. Kozlowski J, Wierzba J, Narozny W, Balcerska A, Stankiewicz C, Kuczkowski J. Auditory function in children with Brachmann-de Lange syndrome. Otolaryngol Pol. 2006;60(4):577-81.	Unavailable full text (author contacted)
4. Mariani M, Decimi V, Bettini LR, Maitz S, Gervasini C, Masciadri M et al. Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients. Am J Med Genet C Semin Med Genet. 2016;172(2):206-13.	Unspecific methodology
5. Moore MV. Speech, hearing, and language in de Lange syndrome. J Speech Hearing Dis. 1970;35(1):66-9.	Unspecific methodology
6. Psillas G, Triaridis S, Chatzigiannakidou V, Constantinidis J. Cornelia De Lange syndrome and cochlear implantat.ion. Iran J Otorhinolaryngol. 2018;30(101):369	Not meeting the study objective
7. Pulec JL, Saadat D. Multichannel cochlear implantation in a child with Brachmann-de Lange syndrome. Otolaryngol Head Neck Surg. 1995;113(5):641-3.	Not meeting the study objective
8. Sataloff RT, Spiegel JR, Hawkshaw M, Epstein JM, Jackson L. Cornelia de Lange syndrome. Otolaryngologic manifestations. Arch Otolaryngol Head Neck Surg. 1990;116(9):1044-6.	Results not clearly presented
9. Marres HA, Cremers CW, Jongbloet PH. Hearing levels in the Cornelia de Lange syndrome. A report of seven cases. Int J Pediatr Otorhinolaryngol. 1989;18(1):31-7.	Results not clearly presented

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[1] Corresponding address: Nayara Pereira Santos, Rua Cipotânea, 51, Cidade Universitária, CEP: 05360-160 - São Paulo, São Paulo, Brasil, E-mail: nayara.pereira@fm.usp.br