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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 -
Clinical and Experimental Pediatrics Jun 2024
PubMed: 38772410
DOI: 10.3345/cep.2023.01025 -
Neurologia Medico-chirurgica May 2024This study aimed to assess the prevalence, severity, and natural history of positional posterior plagiocephaly (PPP) and positional posterior brachycephaly in Japan. We...
This study aimed to assess the prevalence, severity, and natural history of positional posterior plagiocephaly (PPP) and positional posterior brachycephaly in Japan. We conducted a cross-sectional study of pediatric patients, ranging from 0 to 15 years old, evaluated for head trauma with negative computed tomography (CT) findings. The cranial vault asymmetry index (CVAI) was calculated using CT images at the superior orbital rim. Asymmetry according to CVAI values was subcategorized as follows: mild (3.5%-7%), moderate (7%-12%), and severe (>12%). The results were analyzed according to different age groups: group 1, 2-23 months (54 patients); group 2, 2-6 years (123 patients); and group 3, 7-15 years (123 patients). Overall, 300 patients were included (109 [36.3%] girls and 191 [63.7%] boys). The overall prevalence of PPP in the 300 patients was 46.7% (140 patients). PPP prevalence decreased consistently with age group: group 1, 57.4%; group 2, 47.2%; and group 3, 41.5%. Severe asymmetry was seen in all age groups. The overall mean cephalic index (CI) was 85.2. Cephalic index scores decreased consistently with age: group 1, 87.4; group 2, 85.1; and group 3, 84.3. The prevalence of PPP in Japan was higher than that reported in other countries. Although there was an overall decrease in the prevalence and severity of PPP with increasing patient age, PPP does not necessarily resolve spontaneously in all children. Furthermore, severe asymmetry was seen across all age groups.
Topics: Humans; Female; Male; Japan; Adolescent; Child; Infant; Prevalence; Cross-Sectional Studies; Child, Preschool; Plagiocephaly, Nonsynostotic; Craniosynostoses; Severity of Illness Index; Tomography, X-Ray Computed; Infant, Newborn
PubMed: 38432945
DOI: 10.2176/jns-nmc.2023-0216 -
Medicina (Kaunas, Lithuania) Jun 2023Heterozygous pathogenic variants in the gene cause impaired intellectual development and distinctive facial features with or without cardiac defects (MIM #616789)....
Heterozygous pathogenic variants in the gene cause impaired intellectual development and distinctive facial features with or without cardiac defects (MIM #616789). This complex neurodevelopmental disorder is characterised by various phenotypic features, including plagiocephaly, strabismus, clubfoot, poor speech, and developmental delay. The aim of this study was to evaluate the clinical significance and consequences of a novel heterozygous intragenic deletion in a proband with clinical features of a -related disorder through extensive clinical, molecular, and functional characterisation. Combined comparative genomic hybridisation and single-nucleotide polymorphism array (SNP-CGH) was used to identify the changes in the proband's gDNA sequence (DECIPHER #430183). Intragenic deletion was specified via quantitative polymerase chain reaction (qPCR) and Sanger sequencing of the proband's cDNA sample. Western blot and bioinformatics analyses were used to investigate the consequences of this copy number variant (CNV) at the protein level. CRISPR-Cas9 technology was used for a -gene-silencing experiment in a culture of the control individual's skin fibroblasts. After the -gene-editing experiment, subsequent functional fibroblast culture analyses were performed. The analysis of the proband's cDNA sample allowed for specifying the regions of the breakpoints and identifying the heterozygous deletion that spanned exons 3 to 10 of , which has not been reported previously. In silico, the deletion was predicted to result in a truncated protein NP_056150.1:p.(Val104Glyfs*5), partly altering the Med13_N domain and losing the MedPIWI and Med13_C domains. After gene editing was performed, reduced cell viability; an accelerated aging process; and inhibition of the , , and gene expression were found to exist. Based on these findings, heterozygous intragenic 12q24.21 deletion in the affected individual resulted in haploinsufficiency due to the premature termination of protein translation, therefore leading to haploinsufficiency syndrome.
Topics: Humans; Haploinsufficiency; Intellectual Disability; Phenotype; DNA, Complementary; Syndrome; Mediator Complex
PubMed: 37512036
DOI: 10.3390/medicina59071225 -
JPRAS Open Dec 2023This study evaluated the stability of bilateral sagittal split ramus osteotomy (BSSRO) associated with positional plagiocephaly and temporal and masseter muscles using...
This study evaluated the stability of bilateral sagittal split ramus osteotomy (BSSRO) associated with positional plagiocephaly and temporal and masseter muscles using posteroanterior cephalogram analysis and three-dimensional computed tomography (3D-CT). This retrospective cohort study included 31 patients who underwent BSSRO for mandibular asymmetry. The cranial vault asymmetry index (CVAI) and the cephalic index were used as indicators of positional plagiocephaly. The distance from the vertical reference line to the menton (Me) was measured on posteroanterior cephalograms immediately and 1 year after surgery, and postoperative stability was assessed. Temporal and masseter muscles were constructed from 3D-CT data and their volumes were measured. Simple regression analysis showed a significant correlation between postoperative changes in the vertical reference line to the Me and the CVAI ( = 0.56, = 0.001), the amount of surgical movement in the vertical reference line to the Me ( = 0.41, = 0.023), and the variable temporal muscle volume ( = 0.27, = 0.028). There was no significant correlation between postoperative changes in the vertical reference line to the Me and the cephalic index ( = 0.093, = 0.62) and variable masseter muscle volume ( = 0.16, = 0.38). According to multivariate analysis, CVAI ( = 0.003) and amount of surgical movement in the vertical reference line to the Me ( = 0.014) were significant predictors of postoperative change in the vertical reference line to the Me. Positional plagiocephaly and amount of surgical movement influence lateral skeletal stability following BSSRO for mandibular asymmetry.
PubMed: 37675277
DOI: 10.1016/j.jpra.2023.08.006 -
Journal of Clinical Medicine Nov 2023Positional cranial deformities are a common finding in toddlers, yet differentiation from craniosynostosis can be challenging. The aim of this study was to train...
Positional cranial deformities are a common finding in toddlers, yet differentiation from craniosynostosis can be challenging. The aim of this study was to train convolutional neural networks (CNNs) to classify craniofacial deformities based on 2D images generated using photogrammetry as a radiation-free imaging technique. A total of 487 patients with photogrammetry scans were included in this retrospective cohort study: children with craniosynostosis (n = 227), positional deformities (n = 206), and healthy children (n = 54). Three two-dimensional images were extracted from each photogrammetry scan. The datasets were divided into training, validation, and test sets. During the training, fine-tuned ResNet-152s were utilized. The performance was quantified using tenfold cross-validation. For the detection of craniosynostosis, sensitivity was at 0.94 with a specificity of 0.85. Regarding the differentiation of the five existing classes (trigonocephaly, scaphocephaly, positional plagiocephaly left, positional plagiocephaly right, and healthy), sensitivity ranged from 0.45 (positional plagiocephaly left) to 0.95 (scaphocephaly) and specificity ranged from 0.87 (positional plagiocephaly right) to 0.97 (scaphocephaly). We present a CNN-based approach to classify craniofacial deformities on two-dimensional images with promising results. A larger dataset would be required to identify rarer forms of craniosynostosis as well. The chosen 2D approach enables future applications for digital cameras or smartphones.
PubMed: 38002694
DOI: 10.3390/jcm12227082 -
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 -
Indian Pediatrics Apr 2024To estimate the occurrence and severity of deformational plagiocephaly among infants.
OBJECTIVE
To estimate the occurrence and severity of deformational plagiocephaly among infants.
METHODS
A hospital-based, cross-sectional study was done in the pediatric ward of a tertiary care hospital between April 1, 2022 to October 31, 2022. Cranial Vault Asymmetry Index (CVAI) and Argenta Clinical Classification were applied to consecutive infants aged 1 month to 1 year till the calculated sample size was achieved.
RESULTS
67 infants were recruited and the occurrence of deformational plagiocephaly in the sample was estimated to be 46.3%. Level 2 severity of deformational plagiocephaly was the commonest, while as per the Argenta classification, majority belonged to type I (39.2%). Male gender and developmental delay were the significant risk factors for plagiocephaly with an odds ratio (95% CI) of 3.73 (1.23, 11.26) and 19.25 (2.31, 160.3), respectively.
CONCLUSION
A high occurrence of deformational plagiocephaly was found in infants studied. There is a need for more studies to further corroborate these findings and study its associated factors.
Topics: Infant; Child; Humans; Male; Plagiocephaly, Nonsynostotic; Cross-Sectional Studies; Retrospective Studies; Odds Ratio; Risk Factors
PubMed: 38597101
DOI: No ID Found -
Journal of Clinical Medicine Sep 2023(1) Background: Patients with unicoronal craniosynostosis (UCS) often show torticollis which can result from either an ocular cause or contraction of the...
(1) Background: Patients with unicoronal craniosynostosis (UCS) often show torticollis which can result from either an ocular cause or contraction of the sternocleidomastoid muscle. For clinicians, it is crucial to know the prevalence of ocular torticollis (OT) to ensure appropriate referral for treatment. Furthermore, associated ophthalmic features with OT in these patients are scarcely described. The aim of this study was to determine the prevalence of OT in non-syndromic UCS patients and investigate its associated ophthalmic features. (2) Methods: In this descriptive cross-sectional study medical records of non-syndromic UCS patients treated between 1994-2022 in one tertiary care hospital in The Netherlands were retrospectively reviewed. Collected data included: diagnosis and type of torticollis, binocular single vision (BSV), strabismus, ocular motility, alphabetical patterns, refractive error, and amblyopia. Patients were classified as OT, based on their ophthalmic and/or orthoptic diagnosis. Prevalence was determined with the 95% CI using the Clopper-Pearson exact test. Associations between OT and the ophthalmic features were determined using Chi-square or Fishers' exact test and its effect size was calculated using Cramer's V. (3) Results: In total, 146 patients were included, of whom 57 had torticollis. An ocular cause for the torticollis was found in 54 patients. The prevalence of OT was 37% (n = 146; 95% CI [0.292-0.454]). Significant associations were found between OT and strabismus ( < 0.001), ocular motility abnormalities ( < 0.001), alphabetical patterns ( < 0.001), and amblyopia ( = 0.002). BSV ( = 0.277) and refractive error ( = 1.0) were not significantly associated with OT. However, in OT the BSV was relatively poor (42.1%) and more frequently absent (26.3%) compared to the non-torticollis group (7% poor and 16.3% absent). In both groups, excyclotorsion was predominantly present (62.3%). (4) Conclusions: In 95% of cases, torticollis in UCS patients is ocular-related. Overall, one in three patients with UCS have OT. This study emphasizes the importance of a timely referral of all patients with UCS with torticollis to an orthoptist and/or ophthalmologist, specialized in diagnosing and treatment of OT, before considering physiotherapy.
PubMed: 37762999
DOI: 10.3390/jcm12186059