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Children (Basel, Switzerland) Jul 2023Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and...
BACKGROUND
Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and adults from two unrelated families. These children were born with variable clinical manifestations: craniofacial asymmetry, ocular proptosis, floppiness, and progressive deceleration in cognitive development. None of these children underwent a cranial sutures assessment. False diagnoses of positional plagiocephaly, neonatal thyrotoxicosis, congenital muscular atrophy, and hydrocephalus were given to the parents. This sort of malpractice was the reason behind a sequence of devastating pathological events that occurred in the lifetime of these children and adults.
MATERIAL AND METHODS
This was a multigenerational study of two unrelated families. In total, we studied three children (aged 7-19 years) and three adults (aged 40-52 years) from two families. The children from the first family were referred to our departments because of pre-pubertal scoliosis, kyphoscoliosis, and early-onset osteoarthritis. Reading the clinical histories of these children signified apparent clinical misconceptions. For instance, craniofacial asymmetry was misinterpreted as positional plagiocephaly and treated by means of helmet molding therapy. Ocular proptosis was given the false diagnosis of neonatal thyrotoxicosis. Floppiness (hypotonia) was misdiagnosed as congenital muscular dystrophy. The index case from the second family showed progressive deceleration in his cognitive development, associated with signs of increased intracranial pressure. The only diagnosis was Dandy-Walker malformation. We documented every patient in accordance with the clinical and radiological phenotypic characterizations. The genotype characterization followed accordingly.
RESULTS
All patients in family (I) manifested a phenotype consistent to a certain extent with the clinical phenotype of Shprintzen-Goldberg syndrome (SGS), though the intensity of spine deformities was greater than has been described in the literature. The second family showed a constellation of Marfanoid habitus, craniosynostosis, increased intracranial pressure, hydrocephalus, Dandy-Walker malformation, seizures, and intellectual disability. The overall clinical phenotype was consistent but not fully diagnostic of craniosynostosis-Dandy-Walker-malformation hydrocephalus syndrome. The early closure of the sutures was totally different from one patient to another, including the premature closure of the metopic, coronal, squamosal, and sagittal sutures. One patient from family (II) underwent the implementation of a shunt system at the age of 3 years, unfortunately passing over the pre-existing craniosynostosis. In addition to skeletal deformities, a history of seizures and severe intellectual disability was recorded. The proband underwent chromosomal karyotyping, the FISH test, and whole-exome sequencing.
CONCLUSION
The purpose of this study was fivefold. Firstly, to gain a meticulous understanding in order to differentiate between positional plagiocephaly, hypotonia, and congenital exophthalmos and their connections to abnormal craniofacial contours was and still is our first and foremost concern. Secondly, we aimed to characterize craniosynostosis, seizures, intellectual disabilities, and hydrocephalus associated with Marfanoid habitus, which were clearly demonstrated in our patients. Thirdly, we aimed to address the imperative for interpretations of clinical and radiological phenotypes and relate these tools to etiological understanding, which is an essential basis for diagnosis in the majority of long-term pediatric admissions. Fourthly, we aimed to assess the impacts of the missed early closure by the pediatricians and pediatric neurologists, which added a heavy pathological burden on these patients and their families. Fifthly, we aimed to identify whether early and diligent recognition can assist in cranial vault remodeling via surgical intervention to halt premature cranial suture fusions and can possibly alter the devastating course and the complications of the synostosed sutures.
PubMed: 37508737
DOI: 10.3390/children10071240 -
Children (Basel, Switzerland) Jul 2023The objective of this study is to analyze conservative treatments implemented to manage positional plagiocephaly in infants. (Review)
Review
OBJECTIVE
The objective of this study is to analyze conservative treatments implemented to manage positional plagiocephaly in infants.
METHODS
This is a systematic review conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, performed in the Medline (PubMed), Scopus, Web of Science, and Cochrane databases. Articles were selected according to the eligibility criteria, regarding the effectiveness of conservative treatments in positional plagiocephaly in infants, published in the last 10 years with a score ≥3 in the PEDro Scale.
RESULTS
A total of 318 articles were identified and 9 of them were finally selected.
CONCLUSIONS
Physical therapy treatment is considered as the first line of intervention in plagiocephaly with non-synostotic asymmetries and manual therapy is the method that obtains the best results within this intervention. In cases of moderate or severe plagiocephaly, helmet therapy can be an effective second-line intervention; however, the best way to prevent this condition is through counseling of parents or caregivers, and early treatment is essential for optimal therapeutic outcomes. The review was registered in PROSPERO (CDR42022306466).
PubMed: 37508680
DOI: 10.3390/children10071184 -
Current Eye Research Oct 2023To summarize the ophthalmic manifestations of unilateral coronal synostosis patients. (Review)
Review
PURPOSE
To summarize the ophthalmic manifestations of unilateral coronal synostosis patients.
METHODS
We performed a literature search in the electronic database of PubMed, CENTRAL, Cochrane, and Ovid Medline guided by Preferred Reporting Items for Systematic Reviews and Meta-Analysis Statement for studies evaluating ophthalmic manifestations of unilateral coronal synostosis.
RESULTS
Unilateral coronal synostosis, also called unicoronal synostosis, may be mistaken for deformational plagiocephaly, an asymmetric skull flattening common in newborns. Characteristic facial features, however, distinguish the two. Ophthalmic manifestations of unilateral coronal synostosis include a "harlequin deformity", anisometropic astigmatism, strabismus, amblyopia, and significant orbital asymmetry. The astigmatism is greater on the side opposite the fused coronal suture. Optic neuropathy is uncommon unless unilateral coronal synostosis accompanies more complex multi-suture craniosynostosis. In many cases, surgical intervention is recommended; without intervention, skull asymmetry and ophthalmic disorders tend to worsen with time. Unilateral coronal synostosis can be managed by early endoscopic stripping of the fused suture and helmeting through a year of age or by fronto-orbital-advancement at approximately 1 year of age. Several studies have demonstrated that anisometropic astigmatism, amblyopia, and severity of strabismus are significantly lower after earlier intervention with endoscopic strip craniectomy and helmeting compared to treatment by fronto-orbital-advancement. It remains unknown whether the earlier timing or the nature of the procedure is responsible for the improved outcomes. As endoscopic strip craniectomy can only be performed in the first few months of life, early recognition of the facial, orbital, eyelid, and ophthalmic characteristics by consultant ophthalmologists enables expeditious referral and optimized ophthalmic outcomes.
CONCLUSION
Timely identification of craniofacial and ophthalmic manifestations of infants with unilateral coronal synostosis is important. Early recognition and prompt endoscopic treatment appears to optimize ocular outcomes.
Topics: Infant, Newborn; Infant; Humans; Amblyopia; Astigmatism; Retrospective Studies; Craniosynostoses; Strabismus
PubMed: 37382098
DOI: 10.1080/02713683.2023.2224536 -
International Orthopaedics Sep 2023Pavlik harness treatment is the most common treatment in newborns diagnosed with developmental dysplasia of the hip (DDH). The success rates and predictors for failure...
PURPOSE
Pavlik harness treatment is the most common treatment in newborns diagnosed with developmental dysplasia of the hip (DDH). The success rates and predictors for failure have been debated over the last decade. In this study, we explored our treatment failure rate and potential prognostic factors that could predict the failure of Pavlik harness (PH) treatment in patients with DDH.
METHODS
Two hundred and sixty-five patients were treated with PH based on the Graf hip types of classification. Age, gender, first born status, family history, foot deformity, plagiocephaly, breech presentation, hip abduction, hip stability, Graf hip type, Galeazzi sign, bilateralism, and femoral nerve palsy were tested as predictors for failure in multivariate logistic regression mode. Success and failure were determined by the normalization of the hip based on the Graf hip classification.
RESULTS
The failure rate of patients treated with Pavlik harness was 16.6% which is within the reported range of failure rate. The mean age of patients who were successfully treated was 6.73 weeks in comparison to 8.84 weeks for those who failed. Age, plagiocephaly, hip instability, Graf classification, and the development of femoral nerve palsy were found to be predictors for failure of PH treatment upon univariate analysis only. However, only the presence of Galeazzi sign, hip instability, high grades of Graf hip classification, and the development of femoral nerve palsy proved to be independent predictors for failed PH treatment upon multivariate logistic regression analysis.
CONCLUSIONS
Pavlik harness treatment is a successful treatment with an average success of 83.4%. Several independent predictors for failure of PH treatment have been identified. These include a positive Galeazzi sign, a frankly dislocated hip, Graf types III and IV, and the development of femoral nerve palsy.
Topics: Humans; Infant; Infant, Newborn; Hip Dislocation, Congenital; Orthotic Devices; Retrospective Studies; Developmental Dysplasia of the Hip; Prognosis; Treatment Outcome; Paralysis; Ultrasonography
PubMed: 37170027
DOI: 10.1007/s00264-023-05829-3 -
European Journal of Orthodontics Jul 2023This prospective, population-based cohort study aimed to investigate the development of facial asymmetry up to 6 years of age using a three-dimensional (3D) soft tissue...
OBJECTIVES
This prospective, population-based cohort study aimed to investigate the development of facial asymmetry up to 6 years of age using a three-dimensional (3D) soft tissue imaging method in a normal population. In addition, the study sought to identify potential predisposing factors to facial asymmetry.
METHODS
A total of 102 newborns were enrolled in the study at birth. 3D stereophotogrammetric images of the head and face were analysed at the ages of 12 months (T1), 3 years (T2), and 6 years (T3). The surface-based analysis involved the calculation of the average distance (mm) and the symmetry percentage (%) between the original and mirrored surfaces. For landmark-based analysis, the distance of facial landmarks to the facial midline was examined.
RESULTS
The final analysis included 70 (68.6%) subjects. Surface-based analysis showed a significant improvement of facial symmetry from T1 to T3 in all facial areas. Landmark-based analysis showed that upper facial landmarks were located, on average, slightly on the left and lower facial landmarks slightly on the right in relation to the facial midline (P < 0.001).
LIMITATIONS
The size of the study population was limited. Facial posture may affect the reliability of the results, especially in younger children.
CONCLUSION
Facial asymmetry is detectable in early childhood and tends to reduce with age in young children. The lower face deviates slightly to the right, and the upper face to the left in relation to the facial midline. Possible predisposing factors for facial asymmetry at the age of 6 years include deformational plagiocephaly, sleeping position, and previous facial asymmetry.
Topics: Infant, Newborn; Child; Humans; Child, Preschool; Facial Asymmetry; Longitudinal Studies; Cohort Studies; Birth Cohort; Prospective Studies; Reproducibility of Results; Imaging, Three-Dimensional; Cephalometry
PubMed: 37036798
DOI: 10.1093/ejo/cjad012 -
The Cleft Palate-craniofacial Journal :... Jul 2024Families increasingly use online resources to acquire medical information about their child's condition with little understanding of the legitimacy of the source of...
OBJECTIVE
Families increasingly use online resources to acquire medical information about their child's condition with little understanding of the legitimacy of the source of information or of the information itself. We evaluate the quality and readability of online information related to positional head shape conditions and identify unmet needs for healthcare providers to improve online patient education.
DESIGN
The search terms "flat head baby," "brachycephaly," and "plagiocephaly" were queried on the Google search engine and the first 20 websites for each were reviewed. Included websites were evaluated for quality using the DISCERN Instrument and readability using the Flesch-Kincaid Reading Grade Level (FKGL) and Flesch Reading Ease Score (FRES). Websites were categorized by upload source and results were compared using one-way ANOVA.
RESULTS
38 websites met inclusion criteria. There was no significant correlation between DISCERN score and Google search rank between the three search terms. Professional organizations provided websites with the highest mean DISCERN score (56.3) and commercial websites with the lowest score (36.6, = .003), indicating "good" and "poor" quality content, respectively. Readability assessments showed an overall average FKGL of 9.9 and FRES of 54.4, suggesting "fairly difficult". Hospitals provided the most website results and tended to publish lower quality information, yet are the most readable.
CONCLUSIONS
High quality websites written at an appropriate reading level for the general public are lacking. A review of online resources for positional head shape conditions can be used to derive recommendations to improve the content of online patient education for pediatric healthcare.
Topics: Humans; Comprehension; Internet; Consumer Health Information; Search Engine; Patient Education as Topic; Craniosynostoses; Health Literacy
PubMed: 36850070
DOI: 10.1177/10556656231159972 -
Plastic and Reconstructive Surgery Sep 2023The neurodevelopmental effects of skull asymmetry and orthotic helmet therapy for deformational plagiocephaly (DP) have had limited investigation. This study assessed...
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.
Topics: Child; Humans; Infant; Plagiocephaly, Nonsynostotic; Treatment Outcome; Head Protective Devices; Plagiocephaly; Craniosynostoses; Orthotic Devices
PubMed: 36847664
DOI: 10.1097/PRS.0000000000010330 -
The Cleft Palate-craniofacial Journal :... Jun 2024Deformational Plagiocephaly (DP) is commonly treated with cranial orthosis, or helmet therapy. A large, national study on the impact of insurance status on helmet...
OBJECTIVE
Deformational Plagiocephaly (DP) is commonly treated with cranial orthosis, or helmet therapy. A large, national study on the impact of insurance status on helmet outcomes is lacking. We assessed treatment outcomes for helmet therapy based on insurance status.
DESIGN
This was a retrospective data analysis of patients referred to Cranial Technologies, Inc for helmet therapy between 2014-2020 across 21 states.
PATIENTS, PARTICIPANTS
There were a total of 211,417 patients referred for helmeting, of whom 141,513 received helmet therapy.
MAIN OUTCOMES MEASURES
Multivariate regression was used to assess the relationship of insurance status with post-treatment residual flattening, measured by cephalic index (CI) and cranial vault asymmetry index (CVAI), and treating provider rating of success.
RESULTS
Patients with Medicaid were more likely to complete treatment with residual flattening measured by CI and CVAI when compared to patients with private insurance (OR: 1.58, CI: 1.51-1.65, p < 0.001 and OR: 1.21, CI: 1.15-1.28, p < 0.001, respectively). Providers of patients with Medicaid were more likely to give a low rating of success following treatment (OR: 3.25, CI: 2.70-3.92, p < 0.001).
CONCLUSIONS
Our study investigating the impact of insurance status on helmet therapy across 21 states found that patients with Medicaid were more likely to experience residual flattening and have lower provider-rated outcomes compared to those with commercial insurance. Given significant caregiver burden posed by helmet therapy, which requires frequent visits and consistent helmet use, caregivers of patients with Medicaid may require greater support to reduce outcome disparities observed here.
Topics: Humans; Plagiocephaly, Nonsynostotic; Retrospective Studies; Head Protective Devices; Female; Male; United States; Infant; Insurance Coverage; Treatment Outcome; Insurance, Health; Orthotic Devices; Child, Preschool
PubMed: 36655295
DOI: 10.1177/10556656231152517 -
Child: Care, Health and Development Sep 2023Deformational plagiocephaly can be prevented in many healthy infants if strategies are implemented early after birth. However, despite efforts to disseminate accurate... (Review)
Review
BACKGROUND
Deformational plagiocephaly can be prevented in many healthy infants if strategies are implemented early after birth. However, despite efforts to disseminate accurate information, parental adherence to evidence-based prevention strategies is a challenge. To date, factors - barriers and facilitators - influencing parental adherence to strategies have yet to be identified in a comprehensive manner.
OBJECTIVES
This scoping review aims to identify and synthesize current evidence on barriers and facilitators impacting adherence of parents of newborns to deformational plagiocephaly prevention strategies.
METHODS
This review followed the Joanna Briggs Institute (JBI) process guidelines. Seven electronic (Cumulative Index to Nursing and Allied Health Literature (CINAHL), MEDLINE, SPORTDiscus, Academic Search Complete, AMED, PsychINFO and Scopus) and two grey literature (Health Systems Evidence and Grey Literature Report) databases were searched. Studies published between 2001 and 2022 were included. The deductive thematic data analysis used was guided by the Capability, Opportunity, Motivation Behavioral Model (COM-B) of health behaviour change.
RESULTS
From a total of 1172 articles, 15 met the eligibility criteria. All components of the COM-B framework were identified. Capability-psychological and opportunity-environmental factors dominated the literature, whereas capability-physical, motivation and, in particular, opportunity-social factors were understudied. The most often reported barriers were a lack of knowledge of deformational plagiocephaly and the associated prevention strategies, ambiguous or inconsistent messaging, intolerance of babies to prone positioning and a lack of time. The most frequently reported facilitators were an awareness of deformational plagiocephaly, postural asymmetry and prevention strategies, skill acquisition with practice, accurate convincing information, scheduled time and environmental organization to position the baby at home.
DISCUSSION
Recommendations focused on diffusing accurate and detailed information for parents. Our review also suggests a gap regarding the comprehensive identification of factors influencing parental adherence to deformational plagiocephaly prevention strategies. Further studies exploring comprehensive opportunity-social and motivation factors influencing parental adherence to deformational plagiocephaly prevention strategies are warranted to inform prevention programmes and foster better infant outcomes.
Topics: Infant; Humans; Infant, Newborn; Plagiocephaly, Nonsynostotic; Parents; Motivation; Patient Positioning; Health Behavior
PubMed: 36609793
DOI: 10.1111/cch.13095