Quality of life in patients with craniosynostosis and deformational plagiocephaly: A Systematic Review
Introduction
Craniosynostosis is characterized by the premature fusion of one or more cranial sutures. During development, the cranium is formed via intramembranous ossification leaving the sutures, regions of bony expansion, not fully ossified in order to allow passage through the birth canal and change with brain growth [1]. However, signaling pathways responsible for ossification can be disrupted by genetic mutations (fibroblast growth factor (FGF) and transforming growth factor beta (TGF-b)) and environmental factors (intrauterine head restriction, oligohydramnios, teratogen exposure) [1]. Premature ossification of sutures results in multiple dysmorphisms ranging from cranial vault deformity to facial asymmetry, and in severe cases can impact intracranial pressure or cause neurologic deficits [1,2].
Craniosynostosis is often divided into two large classifications: syndromic and non-syndromic. Syndromic craniosynostoses are associated with a wide range of systemic manifestations in addition to often complex multi-suture craniosynostosis, while the more common non-syndromic is isolated and often only involves one suture [2,3]. Only 8–9% of cases are syndromic, often alongside severe developmental and behavioral impacts [3,4]. Of the many syndromic craniosynostoses, the most common are Apert, Crouzon, and Pfeiffer syndromes [5]. Non-syndromic craniosynostoses are further categorized based on the suture involved, with isolated sagittal craniosynostosis (ISC) accounting for a majority of cases; ranging from 45 to 60 % [4,6]. Simple nonsyndromic craniosynostosis must be distinguished from deformational plagiocephaly (DP). DP is the leading cause of deformed calvariums in infants; caused by asymmetric external forces on the skull often due to sleeping on their back [3].
The current management recommendation for intrinsic craniosynostosis patients is surgical correction. Surgical intervention addressing specific suture involvement is usually pursued before one year of age. While syndromic craniosynostosis typically requires complex staged cranial and extra-cranial procedures, non-syndromic patients more commonly only require one procedure, although certainly some may require more [4,5]. Although non-syndromic patients could probably live relatively normal lives without surgery, surgical correction is still preferred to prevent aesthetic and developmental challenges [7]. Alternatively, first line therapy for DP includes sleep repositioning or HMT (for those resistant to sleep adjustments or after 4–6mo) [3].
Recently, there has been increased attention to long term outcomes and quality of life (QoL) measures in craniosynostosis and DP patients. Key outcomes include psychological health, self-image, functioning in society, and developmental challenges to assess the impact of craniosynostosis on everyday life. While surgical treatment addresses the abnormal form in syndromic patients, adverse emotional and social consequences such as low self-esteem, depression, anxiety, limited social exposure, and weak support systems can still ensue [8,9]. Of course, the severity of disease/syndromic manifestation and the type of treatment likely also impacts these QoL outcomes.
Traditional surgery metrics include facial and skull measurements, cephalograms, aesthetic photographs, blood loss, length of surgery and hospitalization, complication rates, and growth changes, but they do not provide information on the condition's impact on the patient or parent [10,11]. Subjective measures such as personal and psychological well-being are noted to be increasingly more meaningful than traditional clinical scoring systems alone.
While the underlying pathology causing craniosynostosis and deformational plagiocephaly are drastically different, both present with abnormal infant head shape. This is the first attempt to systematically review QoL measures and tools employed to evaluate subjective outcomes. Due to the vast differences in underlying pathophysiology and disease severity, QoL outcomes between groups are not being directly compared; rather, the tools employed by surgeons and QoL considerations moving into adulthood are characterized.
Section snippets
Methods and materials
This protocol followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) statement [12]. The literature from EMBASE, MEDLINE, PubMed and Web of Science databases were searched from inscription to October 10, 2020 to identify studies pertaining to craniosynostosis and plagiocephaly QoL measures. Two key phrases were searched throughout all four databases and searches were limited to articles in the English language. The first search was “craniosynostosis” AND
Study population
17 studies were included, 11 dealing with syndromic craniosynostosis, 4 with nonsyndromic craniosynostosis (including 1 complex), and 2 with positional plagiocephaly [6,[13], [14], [15], [16], [17], [18], [19], [20], [21], [22], [23], [24], [25], [26], [27], [28]]. 2 syndromic (18 %), 1 nonsyndromic (25 %), and 2 positional plagiocephaly (100 %) studies were interventional. All study results are summarized in Table 1, Table 2, Table 3.
Fig. 2 summarizes the breakdown of participants in each
Discussion
Quality of life measures have recently been popularized as markers for cranial dysmorphism management success rather than surgical variables (blood loss, length of stay, complications) and traditional aesthetic or functional scales. As there is a paucity of QoL data describing long term outcomes, this review incorporated the literature examining QoL metrics in both syndromic and nonsyndromic craniosynostosis patients as well as DP. While both craniosynostosis and DP are head shape
Conclusions
This review aims to facilitate understanding of and characterize tools to evaluate the unique QoL concerns in craniosynostosis and plagiocephaly for treating otolaryngologists, plastic surgeons, and neurosurgeons. Psychological well-being, social functioning, and secondary health conditions (such as OSA) play essential roles in patient's QoL. Employing standardized tools allows the evaluating surgeon to thoroughly assess and subsequently address detriments in these domains. The CHQ forms,
Financial disclosure statement
Kelley M. Park, Nitika V. Tripathi, and Faisal Al- Mufarrej have no financial disclosures. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
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