Intellectual Outcomes Following Protocol Management in Crouzon, Pfeiffer, and Muenke Syndromes

Abstract

Patients with craniosynostosis syndromes are traditionally managed by a dedicated craniofacial unit. Optimal long-term management of these anomalies is unclear, but in the Australian Craniofacial Unit, it involves ongoing care by an integrated multidisciplinary team, following a protocol that commences at birth and continues until the patient reaches skeletal maturity. The Australian Craniofacial Unit has, for the last 35 years, collected a significant series of patients with these conditions who have completed management from birth to maturity.The aim of this study was to review this series of patients and assess the long-term outcomes of protocol management, focusing in particular on psychologic and social aspects.This review demonstrates that these patients can do well in society, and many achieve higher education and find full-time employment. Regular follow-up and comprehensive multidisciplinary management allows for timely identification of any problems and appropriate intervention. This then helps to maximize the overall outcome for these patients.

Intellectual, Behavioral, and Emotional Functioning in Children With Syndromic Craniosynostosis

“…However, that study used a highly selected sample of patients referred to the hospital. 12 Noetzel and colleagues described intellectual functioning in children who have syndromic craniosynostosis and found FSIQs .90 in 71% of the 24 children in their sample, a percentage comparable to the finding of the current study with 63.2% of the children who have syndromic craniosynostosis obtaining FSIQs .90. 7 A syndromic craniosynostosis subgroup was not predictive of intellectual functioning in our study, with the sole exception of the small group of children who have Apert syndrome who obtained 19 Importantly, most of these previous studies, however, did not use standardized measures to assess behavioral and emotional problems or failed to report on the type of measures used.…”

“…[9][10][11] FSIQs of children who have Crouzon and Pfeiffer syndrome ranged from not testable to 115, but the majority of these children have FSIQs within the average range (90-110). 9,12 Mean FSIQs of patients who have Muenke and Saethre-Chotzen syndrome ranged from 50 to 120. [12][13][14][15][16] No published studies were found on intellectual functioning in children who have complex craniosynostosis.…”

“…9,12 Mean FSIQs of patients who have Muenke and Saethre-Chotzen syndrome ranged from 50 to 120. [12][13][14][15][16] No published studies were found on intellectual functioning in children who have complex craniosynostosis.…”

“…Furthermore, studies have used small samples, the ages of the participants differed widely between studies, and no clear inclusion and exclusion criteria were described. 7,9,11,12,20 Finally, in some studies non-validated instruments were used to assess intellectual, behavioral, and emotional functioning. 18 Clearly the field is in need of studies with larger sample sizes, employing clear inclusion and exclusion criteria and using psychometrically sound instruments to assess intellectual, behavioral, and emotional functioning.…”

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system

“…Surgical treatment may be required, for esthetic reasons and neurological complications 6 . In the treatment of these disorders, craniofacial surgery for cranial decompression performed in the first year of life is fundamental to avoid intracranial hypertension, which may have deleterious effects on the cognitive and linguistic development 7,8 . Regardless of the type or etiology, among craniofacial anomalies, this group represents a significant array of pathologies that may impair different functions of the central nervous system (CNS) during development of the children 9 .…”