Dataset Information

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.

ABSTRACT: Because a tracheal cartilaginous sleeve (TCS) confers a significant mortality risk that can be mitigated with appropriate intervention, we sought to describe the prevalence and associated genotypes in a large cohort of children with syndromic craniosynostosis.Chart review of patients with syndromic craniosynostosis across two institutions.In a cohort of 86 patients with syndromic craniosynostosis, 31 required airway evaluation under anesthesia. TCS was found in 19, for an overall prevalence of 22%. FGFR2, TWIST1, and FGFR3 mutations were identified in children with TCS. All five children with a W290C mutation in FGFR2 had TCS, and most previously reported children with W290C had identification of TCS or early death. In contrast, TCS was not associated with other mutations at residue 290.There is an association between TCS and syndromic craniosynostosis, and it appears to be particularly high in individuals with the W290C mutation in FGFR2. Referral to a pediatric otolaryngologist and consideration of operative airway evaluation (i.e., bronchoscopy or rigid endoscopy) in all patients with syndromic craniosynostosis should be considered to evaluate for TCS. Results from genetic testing may help providers weigh the risks and benefits of early airway evaluation and intervention in children with higher-risk genotypes.Genet Med 19 1, 62-68.

SUBMITTER: Wenger TL

PROVIDER: S-EPMC5846326 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.

Wenger Tara L TL Dahl John J Bhoj Elizabeth J EJ Rosen Anna A McDonald-McGinn Donna D Zackai Elaine E Jacobs Ian I Heike Carrie L CL Hing Anne A Santani Avni A Inglis Andrew F AF Sie Kathleen C Y KC Cunningham Michael M Perkins Jonathan J

Genetics in medicine : official journal of the American College of Medical Genetics 20160526 1

<h4>Purpose</h4>Because a tracheal cartilaginous sleeve (TCS) confers a significant mortality risk that can be mitigated with appropriate intervention, we sought to describe the prevalence and associated genotypes in a large cohort of children with syndromic craniosynostosis.<h4>Methods</h4>Chart review of patients with syndromic craniosynostosis across two institutions.<h4>Results</h4>In a cohort of 86 patients with syndromic craniosynostosis, 31 required airway evaluation under anesthesia. TCS ...[more]

PMID: 27228464

Similar Datasets

Project description:OBJECTIVES:Craniosynostosis is typically diagnosed and surgically corrected within the first year of life. The diagnosis and surgical correction of the condition can be a very stressful experience for families. Despite this, there is little research exploring the impact that craniosynostosis has on families, especially in the period immediately following diagnosis and correction. In this study, the authors aimed to qualitatively examine the psychosocial experience of families with a child diagnosed with craniosynostosis. DESIGN:Qualitative study. SETTING:Tertiary care paediatric health centre. PARTICIPANTS:Mothers of children newly diagnosed with single-suture, non-syndromic craniosynostosis. INTERVENTION:Semistructured interviews regarding parental experience with the initial diagnosis, their decision on corrective surgery for their child, the operative experience, the impact of craniosynostosis on the family and the challenges they encountered throughout their journey. PRIMARY AND SECONDARY OUTCOME MEASURES:Thematic analysis, a type of qualitative analysis that provides an in-depth account of participant's experiences, was used to analyse the interview data. RESULTS:Over a 4-year period, 12 families meeting eligibility criteria completed the study. Three main themes (six subthemes) emerged from the preoperative interviews: frustration with diagnostic delays (parental intuition and advocacy, hope for improved awareness), understanding what to expect (healthcare supports, interest in connecting with other families) and justifying the need for corrective surgery (influence of the surgeon, struggle with cosmetic indications). Two main themes (four subthemes) were drawn from the postoperative interviews: overcoming fear (the role of healthcare professionals, transition home) and relief (reduction in parental anxiety, cosmetic improvements). CONCLUSIONS:Overall, the diagnosis of craniosynostosis has a profound impact on families, leading them to face many struggles throughout their journey. A better understanding of these experiences will help to inform future practice, with a hope to improve this experience for other families moving forward.

Dataset Information

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.

Publications

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure