Neurocognitive Outcomes in Deformational Plagiocephaly: Is There an Association between Morphologic Severity and Results?

BACKGROUND: The neurodevelopmental effects of skull asymmetry and orthotic helmet therapy for deformational plagiocephaly (DP) have had limited investigation. This study assessed the long-term neurocognitive outcomes in patients with DP and their association with orthotic helmet therapy and head shape abnormality. METHODS: A total of 138 school-age children with a history of DP, 108 of whom received helmet therapy, were tested with a neurocognitive battery assessing academic achievement, intelligence quotient, and visual-motor function. Severity of presenting plagiocephaly was calculated using anthropometric and photometric measurements. Analysis of covariance was used to compare outcomes between helmeted and nonhelmeted cohorts, unilateral plagiocephaly and concomitant brachycephaly, and left-sided and right-sided plagiocephaly. The association between severity of plagiocephaly and neurocognitive outcome was assessed through a residualized change approach. RESULTS: There were no significant differences in neurocognitive outcomes between the helmeted and nonhelmeted DP cohorts or the unilateral plagiocephaly and brachycephaly cohorts. Participants with left-sided DP had significantly lower motor coordination scores than participants with right-sided DP (84.8 versus 92.7; effect size = -0.50; P = 0.03). There was a significant laterality by cephalic index interaction, with a negative association between cephalic index and reading comprehension and spelling for participants with left-sided DP. No significant associations were found between severity of presenting or posttreatment deformity and neurocognitive outcome. CONCLUSIONS: Pretreatment and posttreatment severity of plagiocephaly were not correlated with neurocognitive function at school age. Helmet therapy was not associated with better or worse long-term neurocognitive function. However, participants with left-sided DP demonstrated worse neurocognitive outcomes than participants with right-sided DP in the domains of motor coordination and some types of academic achievement. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.

Molding Helmet Therapy for Severe Deformational Brachycephaly: Position of Eurion and Therapeutic Effect.

BACKGROUND: Molding helmet therapy is used routinely for moderate to severe deformational plagiocephaly. However, there have been few reports of its use for deformational brachycephaly (DB). The incidence and severity of DB are high in the Asian population, including Japanese people, but there are no reports of treatment for severe cases. The current study showed significant improvement even in severe DB with various deformities. The difference in improvement according to the morphologic classification was investigated. METHODS: The study included 47 patients treated with helmet therapy for DB with a cephalic index of greater than 100%. Three-dimensional head scans were used for classification and measurement. DB was classified into four types according to the position of the eurion and the presence of deformational plagiocephaly. The therapeutic effect was determined by changes in cephalic index and cranial asymmetry. RESULTS: Patients exhibited a mean change of 8.0% in cephalic index and 6.4 mm in cranial asymmetry. An older age at initiation was associated with less change in both cephalic index and cranial asymmetry. A significant difference in the amount of cephalic index change was observed depending on the position of the eurion when the starting age was 6 months or older ( P < 0.05). CONCLUSIONS: Molding helmet therapy for severe DB results in significant morphological improvement. However, depending on the position of the eurion, the effect of treatment may be decreased if it is started too late. It is necessary to understand the difference in improvement depending on the morphology and to ensure early intervention. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Positional Plagiocephaly and Craniosynostosis.

Along with the decrease in sudden infant death syndrome due to the successful "Back to Sleep" Campaign, there was a reciprocal increase in cases of positional plagiocephaly (PP). The prevalence of PP significantly rose from approximately 5% to upward of 46% at age 7 months. Consequently, clinicians have seen a surge in the number of patients presenting with head shape abnormalities. Not only does this increase in patient volume pose a logistical problem to clinics, but it also poses a potential risk to patients with craniosynostosis, whose head shape anomalies are similar to a "needle in a haystack" of patients with more common PP. This review explores the causes, risk factors, and treatment options of PP and craniosynostosis, along with the differential of head shape anomalies based on phenotypic presentation. In doing so, we hope to provide pediatric care clinicians with the tools necessary to effectively evaluate and manage patients with head shape abnormalities. [Pediatr Ann. 2023;52(1):e10-e17.].

Predictive Factors of Outcomes in Helmet Therapy for Deformational Plagiocephaly and Brachycephaly.

Deformational plagiocephaly and brachycephaly, or abnormal flattening of the infant skull due to external forces, are often managed with orthotic helmet therapy. Although helmet therapy is widely used, the factors that predict poor outcomes are not well characterized. In this study of over 140,000 patients who received helmet therapy, older age and greater severity at presentation, and noncompliance with treatment were each independently associated with worse craniometric and provider-reported outcomes. Each additional point of cranial vault asymmetry index or cephalic index at a presentation is associated with an increased likelihood of residual brachycephaly at completion [odds ratio (OR): 1.067; 95% Cl: 1.058-1.075; P <0.0001 and OR: 2.043; 95% CI: 2.021-2.065; P <0.0001, respectively], whereas each additional point of cranial vault asymmetry index at a presentation associated with increased likelihood of residual asymmetry at completion (OR: 2.148; 95% Cl: 2.118-2.179; P <0.0001). Patients were more likely to have residual brachycephaly or asymmetry with increasing age at treatment initiation (OR: 1.562; 95% CI: 1.524-1.600; P <0.0001 and OR: 1.673; 95% Cl: 1.634-1.713; P <0.0001, respectively, for each additional month of age at initiation). These results highlight a need for prompt referral for helmeting, especially in cases with severe features or when patients present late to care. Potentially modifiable factors are age at helmeting and compliance with treatment protocols, and consideration of these factors may be important for achieving success in some cases.

The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.

Craniosynostosis is a major congenital craniofacial disorder characterized by the premature fusion of cranial suture(s). Patients with severe craniosynostosis often have impairments in hearing, vision, intracranial pressure and/or neurocognitive functions. Craniosynostosis can result from mutations, chromosomal abnormalities or adverse environmental effects, and can occur in isolation or in association with numerous syndromes. To date, surgical correction remains the primary treatment for craniosynostosis, but it is associated with complications and with the potential for re-synostosis. There is, therefore, a strong unmet need for new therapies. Here, we provide a comprehensive review of our current understanding of craniosynostosis, including typical craniosynostosis types, their clinical manifestations, cranial suture development, and genetic and environmental causes. Based on studies from animal models, we present a framework for understanding the pathogenesis of craniosynostosis, with an emphasis on the loss of postnatal suture mesenchymal stem cells as an emerging disease-driving mechanism. We evaluate emerging treatment options and highlight the potential of mesenchymal stem cell-based suture regeneration as a therapeutic approach for craniosynostosis.

Assessment of paediatric head shape and management of craniosynostosis.

BACKGROUND: The presentation of a child with an abnormal head shape can be challenging and should be met with an appropriate clinical approach. Craniosynostosis is a common cause of paediatric skull deformity and is best managed by a multispecialty tertiary referral unit with regular follow-up. As craniosynostosis frequently requires time-sensitive surgery, it is important to differentiate between craniosynostosis and common self-limiting conditions such as deformational plagiocephaly. OBJECTIVE: The aim of this article is to outline the clinical approach to paediatric skull deformity in the general practice setting, and to highlight the importance of early referral if there is clinical suspicion of craniosynostosis. DISCUSSION: Parental concern regarding infant head shape is common. General practitioners (GPs) have an important role in assessment, diagnosis and referral for paediatric skull deformities. GPs are well placed to clinically differentiate between deformational plagiocephaly and craniosynostosis and provide timely referrals to optimise patient outcomes.

Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.

Pfeiffer syndrome is one of the autosomal dominant craniofacial syndromes. Classical clinical manifestations are coronal suture synostosis causing brachycephaly, midface retrusion, airway compromise, broad thumbs, and toes. Pfeiffer syndrome type I (classic type) is associated with FGFR1 mutation. However, wide range of clinical manifestations, with and without craniosynostosis, have been reported. Here, we present a family of Pfeiffer syndrome across 3 generations with identical FGFR1: c.755C>G (p.Pro252Arg) mutation. Where the members of the youngest generation have no cranial involvement. Lastly, we propose a guideline management for familial Pfeiffer syndrome management.

Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.

OBJECTIVES/HYPOTHESIS: A tracheal cartilaginous sleeve (TCS) is a rare anomaly characterized by anterior fusion of tracheal cartilages. TCS is associated with syndromic craniosynostoses including Apert, Crouzon and Pfeiffer syndromes and FGFR2, FGFR3, and TWIST1 variants. This study presents a 30-year review of patients with syndromic craniosynostosis and TCS and describes diagnostic methods, genetic variants, surgical interventions, and long-term outcomes. STUDY DESIGN: Retrospective, single-institution review. METHODS: This review included patients with syndromic craniosynostosis and TCS treated at Seattle Children's Hospital from 1990 to 2020. Tracheostomy, genetic variants, and additional surgery were primary measures. Fisher's exact test compared need for tracheostomy in patients with proposed high-risk (FGFR2 p.W290 or FGFR2 p.C342) versus low-risk genetic variants. RESULTS: Thirty patients with TCS were identified. Average age at diagnosis was 12 months (range 2-weeks to 7.9-years; standard deviation 19.8 months). Syndromes included Pfeiffer (37%), Apert (37%), and Crouzon (26%). Severe obstructive sleep apnea was present in 76% of patients. Tracheostomy was performed in 17 patients (57%); five were successfully decannulated. Additional interventions included adenotonsillectomy (57%), nasal (20%), laryngeal (17%), and craniofacial skeletal surgery (87%). All patients with Pfeiffer syndrome and FGFR2 p.W290C variants and 83% of patients with FGFR2 p.C342 variants required tracheostomy, differing from other variants (P = .02, odds ratio 33, 95% confidence interval 1.56-697.96). One patient (3%) died. CONCLUSION: TCS contributes to multilevel airway obstruction in patients with syndromic craniosynostosis. Genetic testing in patients with FGFR2-related syndromic craniosynostoses may identify those at risk of TCS and facilitate early intervention. A better understanding of this patient population may foster individualized airway management strategies and improve outcomes. LEVEL OF EVIDENCE: 4 Laryngoscope, 132:215-221, 2022.

Improvement in Total and Face-to-Face Provider Time in a Multidisciplinary Craniofacial Team Clinic: An Interventional Study.

OBJECTIVE: Identify factors contributing to time a family spends in a Multidisciplinary Craniofacial Team Clinic (MDCT) and implement an intervention to reduce this time. DESIGN: Interventional: a restructuring of clinics to serve those patients requiring fewer provider encounters separately. SETTING: An American Cleft Palate-Craniofacial Association-accredited MDCT in an academic children's hospital. PATIENTS/PARTICIPANTS: One hundred sixty-seven patients with craniofacial diagnoses. INTERVENTIONS: Time data were tabulated over ∼2 years. Following 9 months of data collection, patients requiring fewer provider encounters were scheduled to a separate clinic serving children with craniosynostosis, and data were collected in the same fashion for another 14 months. MAIN OUTCOME MEASURES: Principal outcome measures included total visit time and proportion of the visit spent without a provider in the room before and after clinic restructuring. RESULTS: The average time spent by family in a clinic session was 161.53 minutes, of which 64.3% was spent without a provider in the room. Prior to clinic restructuring, a greater number of provider encounters was inversely associated with percentage of time spent without a provider (P < .001). Upon identifying this predictor, scheduling patients who needed fewer provider encounters to a Craniosynostosis Clinic session resulted in reduction in absolute and percentage of time spent without a provider (P < .001). CONCLUSIONS: The number of provider encounters is a significant predictor of the proportion of a clinic visit spent without a provider. Clinic restructuring to remove patient visits that comprise fewer provider encounters resulted in a greater percentage of time spent with a provider in an MDCT.

Quality of life and satisfaction in surgical versus conservative treatment of nonsyndromic children with craniosynostosis.

OBJECTIVE: Craniosynostosis represents the second most common reason for referral to pediatric neurosurgery. However, the quality of life and neurodevelopmental impact of leaving this physical disorder uncorrected is poorly understood. METHODS: This multicenter cross-sectional study identified previously managed nonsyndromic infants (< 24 months of age) with single-suture craniosynostosis at both pediatric neurosurgical centers in Alberta, Canada. The primary variable of interest was the allocated treatment (surgical vs conservative). The primary outcome was the Pediatric Quality of Life Inventory (PedsQL), a validated measure of quality of life examining physical, emotional, social, and school functioning. Treatment decision satisfaction and the reasons for selected management were quantified and collected directly from caregivers. RESULTS: One hundred fourteen children met the inclusion criteria: 78% underwent surgery and 22% had conservative treatment. The most common suture affected was sagittal (54%), followed by metopic (33%), coronal (10%), and lambdoid (3%). Caregivers most commonly opted for surgery because of severe appearance (80%). Seventy-six percent and 72% of the caregivers of children with conservative management did so due to concerns of surgical risks and mild appearance, respectively. There was a statistically significant relationship between both the parents' (p < 0.001) and the surgeon's (p = 0.001) impression of a severe head shape and surgical management. Parental satisfaction with their child's appearance as well as satisfaction with their treatment decision did not differ between management types. Regarding quality of life, on univariate analysis, the conservative group had a statistically higher physical summary score (p = 0.01), psychosocial summary score (p = 0.004), and mean total scale score (p = 0.003) compared to the surgical group. However, after adjusting for severity and age at consult, no significant independent associations between management type and any of the PedsQL summary scores were found. CONCLUSIONS: Alberta families have a high number of children with craniosynostosis treated with conservative management. Conservatively managed infants were largely minimally affected patients, particularly those with metopic synostosis. The study found no independent association between management type (surgery vs conservative) and quality of life when adjusted for important patient factors.

Validation of Skully Care as a Fast Method for Quantifying Positional Cranial Deformities.

OBJECTIVE: Craniofacial measuring is valuable for diagnosis and evaluation of growth and treatment of positional skull deformities. Plagiocephalometry (PCM) quantifies skull deformities and is proven to be reliable and valid. However, PCM needs direct skin contact with thermoplastic material, is laborious and time-consuming. Therefore, Skully Care (SC) was developed to measure positional skull deformities with a smartphone application. DESIGN: SC is retrospectively compared to PCM. SETTING: Pediatric physiotherapy centers. PATIENTS: Age ≤1 year, analyzed or treated for positional skull deformities. INTERVENTIONS: A total of 60 skull shape analyses were performed. MAIN OUTCOME MEASURES: The main outcome measures employed are Pearson correlation coefficient between cranial vault asymmetry index (CVAI; in SC) and oblique diameter difference index (ODDI; in PCM) and between cranial index (CI; in SC) and cranial proportional index (CPI; in PCM). Mann-Whitney U test determined difference of time consumption between PCM and SC. RESULTS: High correlation was found between CVAI and ODDI (r = 0.849; P < .01) in positional plagiocephaly and very high correlation between CI and CPI (r = 0.938; P < .01) in positional brachycephaly. SC is significantly faster than PCM (P < .001). CONCLUSIONS: SC is valid in analyzing positional skull deformities and strongly correlates to PCM, the gold standard in daily physiotherapy practice. The combination of simplicity, validity, speed, and user and child convenience makes SC a promising craniofacial measuring method in daily practice. SC has potential to be the modern successor for analyzing positional skull deformities.

Evaluating malformations of the lacrimal drainage system in brachycephalic dog breeds: A comparative computed tomography analysis.

OBJECTIVES: This study aimed to investigate and compare the anatomical features of the nasolacrimal drainage system (NDS) in three brachycephalic dog breeds with those of normocephalic dogs, taking into account how the NDS was related to the malformed brachycephalic head. ANIMALS: Fifty-one brachycephalic dogs were examined, comprising 23 Pugs, 18 French Bulldogs, and 10 English Bulldogs. Six normocephalic dogs of different breeds served as a comparison. METHODS: Computed tomographic dacryocystography was performed. Parameters such as length, angulation, and gradient were determined. Crossing of the nasolacrimal duct (NLD) beneath the maxillary canine root, as well as the incidence of an accessory opening, were also analyzed. RESULTS AND CONCLUSIONS: In all three brachycephalic breeds, the NDS was grossly malformed. We regard this as a further consequence of exaggerated breeding for a short head conformation. While the length of the NLD was substantially reduced by 41 to 57 percent in brachycephalic dogs, their lacrimal canaliculi were two to three times as long as those of normocephalic dogs. Varying parts of the nasolacrimal drainage system followed an inverse direction in short-headed dogs, giving the entire nasolacrimal apparatus an anomalous U- or V-shaped appearance. The NLD exhibited a three to five times steeper alignment in brachycephalic dogs than in normocephalic ones. Obviously, this strong slope did not cause clinical symptoms only because there was an aberrant outflow pathway. The brachycephalic dogs consistently exhibited an accessory opening, through which most of fluid escaped into the posterior nasal cavity instead of through the common route into the nasal vestibule via the nasolacrimal ostia.

Demographics of Positional Plagiocephaly and Brachycephaly; Risk Factors and Treatment.

ABSTRACT: In the last 3 decades, the incidence of positional cranial deformations in infants, such as positional plagiocephaly and positional brachycephaly, has increased. The deviating shape often causes parental concern for the later psychosocial wellbeing of the child. Treatment options are nonoperative, varying from positional change to helmet therapy, of which the effect has often been debated. Multiple risk factors have been associated with an increased risk on the development of these deformations. The goal of this study was to assess the impact of known risk factors on the type and severity of resulting positional cranial deformation.Parents were asked to fill out a questionnaire regarding the presence of risk factors, such as gender, age, pregnancy duration, method of delivery and reasons for atypical deliveries, breech position, birth weight, developmental status, positional preference, family history, number of siblings, and torticollis presence. Treatment methods were documented and plagiocephalometry was used to measure the cranial proportions. All children were invited to participate in short-term follow-up. The significance of the risk factors and the effect of different kinds of therapy are discussed. Although no significant correlation was found between severity and risk factors, some risk factors could be correlated with the kind of positional cranial deformation. Of the different therapies, helmet therapy had a significant impact on the reduction of positional plagiocephaly.

A bibliometric overview of craniosynostosis research development.

This article reviews the development of research in the field of craniosynostosis from a bibliometric standpoint. Craniosynostosis is a malformation occurring during the early development of the skull, when one or more of the sutures close too early, causing problems with normal brain and skull growth. Research in this field has developed from early clinical case descriptions, to genetic discoveries responsible for the occurring malformations and onwards to developing sophisticated surgical treatment. In this article we describe these developments, zoom in on publication trends and characteristics and visualize developing networks and topic shifts in this research field.

Safe Sleep, Plagiocephaly, and Brachycephaly: Assessment, Risks, Treatment, and When to Refer.

The Safe to Sleep campaign started in 1994, reducing the risk of sudden infant death syndrome (SIDS) by 40% to 60%. However, an undesirable consequence has been a 400% to 600% increase in positional head deformities. We review the risks for positional plagiocephaly or brachycephaly, treatment modalities, and when to refer. Differential diagnoses for non-positional deformities are discussed. Risks for positional head deformities include prenatal, perinatal and postnatal factors. These include torticollis, inadequate tummy time, abnormal intrauterine positioning, premature or postmature birth, prolonged labor, complex medical conditions, prolonged hospitalizations, developmental delay, and use of supportive or convenience devices. Recommended treatment involves repositioning techniques or physical therapy with or without helmet use. Early referral to physical therapy or a head shape program insures better outcomes for full correction of the deformity. The severity of residual deformities is directly related to the age at which the child is referred. [Pediatr Ann. 2020;49(10):e440-e447.].

Craniosynostosis: Clinical Presentation, Genetics, and Prenatal Diagnosis.

IMPORTANCE: Craniosynostosis is a fetal condition caused by premature closure of the cranial sutures. Through provider awareness, we can raise suspicion in high-risk individuals, increase prenatal detection, optimize genetic testing, perform appropriate antenatal surveillance and delivery planning, and allow for a comprehensive, multidisciplinary approach to treatment. OBJECTIVE: The aim of this study was to review what is currently known regarding the genetics, pathophysiology, diagnosis, and treatment of craniosynostosis for the obstetric care provider. EVIDENCE ACQUISITION: A comprehensive literature review was performed using the PubMed database with the search term "craniosynostosis." The search was limited to the English language. RESULTS: A total of 220 articles were identified, and a total of 53 were used in completion of this article. The results highlight the multiple factors involved with abnormal suture formation, including various genetic factors. Although rare at this time, prenatal detection can allow families to prepare and practitioners to provide appropriate clinical treatment. Both 3-dimensional sonography and magnetic resonance imaging have been identified as modalities to aid in detection for high-risk individuals. Early referral allows for less-invasive surgical outcomes with lower complication rates. RESULTS: Familiarity with craniosynostosis among obstetric providers can improve patient counseling, prenatal detection rates, and appropriate antepartum, intrapartum, and postpartum counseling.

Applicative Factors of Helmet Molding Therapy in Late-diagnosed Positional Plagiocephaly.

BACKGROUND: Although the benefits of helmet therapy for positional plagiocephaly are strongly correlated with age, the effective period remains controversial. However, most physicians agree that effective results can be obtained in patients within the age of 6 months. Owing to the characteristics of positional plagiocephaly in Koreans, many Korean patients have delayed diagnosis, and because this results in delayed onset of the helmet therapy, the outcomes remain largely underevaluated. In the management of late-diagnosed positional plagiocephaly, we aimed to determine the factors affecting the effective application of helmet therapy. METHODS: We recruited 39 consecutive patients with positional plagiocephaly who received helmet therapy and completed the treatment between December 2008 and June 2016. The ages at initiation and completion of treatment, duration of daily use, initial and final absolute diagonal differences, cephalic index, and cranial vault asymmetry index (CVAI) were analysed using data retrospectively collected from the patients' medical records. RESULTS: We identified 12 patients with late-diagnosed positional plagiocephaly, of whom 83.33% were effectively treated. The effective change in CVAI (%) was affected by age at treatment initiation (P = 0.001), initial absolute diagonal distance differences (P < 0.001), and initial CVAI (P < 0.001). Up to 9 months, a gradual change of at least 1% CVAI was attained. Treatment initiation at ages < 5.5 months was beneficial. Even at a later age, patients with an initial absolute diagonal distance difference of > 13.50 mm and initial CVAI of > 11.03% could receive effective helmet therapy. CONCLUSION: The efficacy of helmet therapy in late-diagnosed patients can be predicted on the basis of not only age at treatment initiation, but also initial absolute diagonal distance differences and initial CVAI. We anticipate that even patients with late-diagnosed positional plagiocephaly can expect better helmet therapy outcomes.