Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile

Jong, T. de; Bannink, Natalja; Bredero-Boelhouwer, Hansje; Veelen, M.L.C. van; Bartels, Marjolijn C; Hoeve, L.J.; Hoogeboom, A. Jeannette M.; Wolvius, Eppo B.; Lequin, Maarten H.; Meulen, Jacques J. N. M. van der; Adrichem, L.N.A. van; Vaandrager, J. Michiel; Ongkosuwito, Edwin M.; Joosten, Koen; Mathijssen, Irene M.J.

doi:10.1016/j.bjps.2009.10.029

Cited by 106 publications

(106 citation statements)

References 22 publications

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“…d) One meta-analysis identified craniofacial characteristics consistent with OSAS [28], whereas a second meta-analysis suggested that the differences between children with SDB and controls are of marginal clinical significance [29]. e) All relevant publications are of class III or IV [30][31][32]. Not all studies concluded that repair of cleft palate increases the risk of OSAS [32][33][34].…”

Section: Literature Reviewmentioning

confidence: 99%

Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management

et al. 2015

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This document summarises the conclusions of a European Respiratory Society Task Force on the diagnosis and management of obstructive sleep disordered breathing (SDB) in childhood and refers to children aged 2-18 years. Prospective cohort studies describing the natural history of SDB or randomised, double-blind, placebo-controlled trials regarding its management are scarce. Selected evidence (362 articles) can be consolidated into seven management steps. SDB is suspected when symptoms or abnormalities related to upper airway obstruction are present (step 1). Central nervous or cardiovascular system morbidity, growth failure or enuresis and predictors of SDB persistence in the long-term are recognised (steps 2 and 3), and SDB severity is determined objectively preferably using polysomnography (step 4). Children with an apnoea-hypopnoea index (AHI) >5 episodes·h, those with an AHI of 1-5 episodes·h −1 and the presence of morbidity or factors predicting SDB persistence, and children with complex conditions (e.g. Down syndrome and Prader-Willi syndrome) all appear to benefit from treatment (step 5). Treatment interventions are usually implemented in a stepwise fashion addressing all abnormalities that predispose to SDB (step 6) with re-evaluation after each intervention to detect residual disease and to determine the need for additional treatment (step 7). @ERSpublications Management of obstructive sleep disordered breathing in childhood should follow a stepwise approach

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Section: Literature Reviewmentioning

confidence: 99%

Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management

et al. 2015

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“…4,5,[14][15][16]20,22,[24][25][26]32,33 Others have speculated that reduced intracranial volume and/ or elevated intracranial pressure impair brain development. 9 However, Hill et al 12 recently demonstrated that intracranial volume constraint was not responsible for alterations in brain function. Radiographic assessment of patients with craniosynostosis remains an important step in treatment planning and provides a baseline from which to measure surgical outcomes, but imaging lacks the responsiveness necessary to determine how an anatomical finding impacts a patient's well-being.…”

Section: Radiographic Assessmentmentioning

confidence: 99%

Need for standard outcome reporting systems in craniosynostosis

Szpalski

Weichman

Sagebin

2011

FOC

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Craniosynostosis is the premature fusion of one or more cranial sutures. When a cranial suture fuses prematurely, skull growth is altered and the head takes on a characteristic pathological shape determined by the suture(s) that fuses. Numerous treatment options have been proposed, but until recently there were no parameters or guidelines of care. Establishing such parameters was an important step forward in the treatment of patients with craniosynostosis, but results are still assessed using radiographic measurements, complication rates, and ad hoc reporting scales. Therefore, clinical outcome reporting in the treatment of craniosynostosis is inconsistent and lacks methodological rigor. Today, most reported evidence in the treatment of craniosynostosis is level 5 (expert opinion) or level 4 (case series) data. Challenges in obtaining higher quality level 1 or level 2 data include randomizing patients in a clinical trial as well as selecting the appropriate outcome measure for the trial. Therefore, determining core outcome sets that are important to both patients and health care professionals is an essential step in the evolution of caring for patients with craniosynostosis. Traditional clinical outcomes will remain important, but patient-reported outcomes, such as satisfaction, body image, functional results, and aesthetic outcomes, must also be incorporated if the selected outcomes are to be valuable to patients and families making decisions about treatment. In this article, the authors review the most commonly used tools to assess craniosynostosis outcomes and propose a list of longitudinal parameters of care that should be considered in the evaluation, diagnosis, and treatment evaluation of a patient with craniosynostosis.

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“…Also, amblyopia and visual impairment are more common in patients with the FGFR2 Ser252Trp mutation [38,39]. Strabismus is present in as much as 93% of all patients and a refractive error was found in 76% [20].…”

Section: Visual Impairmentmentioning

confidence: 99%

“…Of these patients, 35% developed a second episode of raised intracranial pressure on average 3 years after the initial episode. In a cohort of patients of which 95% was operated primarily (so before ICHT developed), 14% also developed ICHT during follow up [20]. The Australian Craniofacial Unit has reported that only two of 28 adult patients with Apert syndrome had required shunting after initial cranial vault remodeling (mainly frontal-occipital expansion) [21].…”

Section: Craniofacial Anomaliesmentioning

confidence: 99%

Apert syndrome: the Paris and Rotterdam philosophy

Driessen

vanVeelen-Vincent

Joosten

et al. 2017

Expert Opinion on Orphan Drugs

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Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet. This review includes background information about the syndrome and several aspects of the treatment. Areas covered: The cause of Apert syndrome is found in unique mutations in the Fibroblast Growth Factors Receptor (FGFR) 2 gene in 99%. It results in cranial suture fusion, craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet. Patients with Apert syndrome are at risk for mental retardation, mobility impairment and intracranial hypertension (ICHT). This is the result of a complex interaction between (1) abnormal skull growth, (2) ventriculomegaly, (3) venous outflow obstruction and (4) obstructive sleep apnea (OSA). Mental retardation is mainly determined by the FGFR2 mutation and treatment is directed at protecting the intrinsic potential of neurocognition. Expert Opinion: To prevent ICHT, we prefer an occipital expansion in the first year of life. Screening on ICHT and its underlying causes is necessary at least until the age of ten by means of skull circumference measurements, fundoscopy, optical coherence tomography, MRI and polysomnography. Multicentre studies on long-term outcome are required to validate the rationale of different clinical protocols. ARTICLE HISTORY

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Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile

Cited by 106 publications

References 22 publications

Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management

Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management

Need for standard outcome reporting systems in craniosynostosis

Apert syndrome: the Paris and Rotterdam philosophy

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