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Postoperative mental and morphological outcome for nonsyndromic brachycephaly
Eric Arnaud1, Pedro Meneses, Elizabeth Lajeunie
1Groupe d'Etudes des Malformations Craniofaciales, Service de Neurochirurgie, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
Insights
Early fronto-orbital advancement surgery before age one is crucial for children with brachycephaly to improve mental development and prevent cognitive impairment. Genetic factors like the FGFR3 P250R mutation may influence outcomes.
Area of Science:
- Pediatric Neurosurgery
- Craniofacial Surgery
- Developmental Pediatrics
Background:
- Bilateral coronal synostosis leads to brachycephaly, causing functional and morphological issues.
- Intracranial hypertension in these cases can result in mental impairment.
- Fronto-orbital advancement is the standard surgical correction in infancy.
Purpose of the Study:
- To prospectively evaluate the preoperative and postoperative mental outcomes in children with isolated brachycephaly.
- To analyze factors influencing mental outcomes, including age at treatment and surgery.
- To assess the impact of the FGFR3 P250R mutation on mental and morphological results.
Main Methods:
- Prospective follow-up of 99 children with isolated brachycephaly.
- Mental status evaluation using developmental or intelligence quotients.
- Analysis of preoperative and postoperative assessments, including correlation and subgroup analysis for FGFR3 P250R mutation carriers.
Main Results:
- Preoperative mental status was significantly better in patients treated before one year of age (p < 0.001).
- Preoperative mental assessments strongly correlated with postoperative outcomes (p < 0.0001).
- Surgery before one year of age led to better postoperative mental outcomes (p < 0.02).
- While non-carriers of the FGFR3 P250R mutation showed better outcomes, differences were not statistically significant.
- Temporal bulging was a common cause of poor morphological outcomes in mutation carriers.
Conclusions:
- Early surgical intervention (before age one) is essential for optimal mental development in brachycephalic patients.
- Nonsyndromic brachycephaly patients with the FGFR3 P250R mutation may experience suboptimal mental and morphological outcomes.
- Addressing temporal bulging concurrently with fronto-orbital advancement can enhance morphological results in mutation carriers.
Abstract:
Bilateral coronal synostosis causes functional and morphological problems that require fronto-orbital advancement in infancy to correct the brachycephalic deformity and to prevent mental impairment caused by the intracranial hypertension. In this study, 99 children with isolated cases of brachycephaly were prospectively followed to study their preoperative and postoperative mental outcome, which was evaluated using developmental or intelligence quotients. Several factors were analyzed: age before treatment, age at the time of surgery, and the correlation between mental assessments before and after surgery. In a subgroup or patients tested for the FGFR3 P250R mutation (n = 48), mental and morphological assessments were analyzed. Before surgery, mental status was better in the patients tested before 1 year of age (p < 0.001). The preoperative mental assessment always correlated with the postoperative assessment (p < 0.0001). The postoperative mental outcome was better when surgery was performed before the patient reached 1 year of age (p < 0.02). Although both the morphological and functional outcomes were better in the subgroup of noncarriers of the mutation, the differences were not statistically significant. Prominent bulging of the temporal fossae was frequently responsible for poor morphological outcome in carriers of the mutation. This study confirms the need for early corrective surgery before 1 year of age in brachycephalic patients to prevent impairment of their mental development. Suboptimal morphological and mental outcomes can be expected in patients with nonsyndromic brachycephaly who carry the FGFR3 P250R mutation. Primary correction of the temporal bulging should be performed in conjunction with fronto-orbital advancement to improve the morphological outcome in patients with the mutation.