-
Pediatric Reports Mar 2022Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term...
Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed. The patient was a 6-year-old Caucasian female. In the family history there was no intellectual disability or genetic conditions. Auxological parameters at birth were adequate for gestational age. Clinical evaluation at 6 months revealed hypotonia and, successively, delay in the acquisition of the stages of psychomotor development. Auditory, visual, somatosensory, and motor-evoked potentials were normal. A brain MRI, performed at 9 months, showed minimal gliotic changes in bilateral occipital periventricular white matter. Neuropsychiatric control, performed at 5 years, established a definitive diagnosis of childhood autism and developmental delay. Molecular analysis of the exome revealed a novel KMT2C missense variant: c.9244C > T (p.Pro3082Ser) at a heterozygous state, giving her a diagnosis of Kleefstra syndrome 2. Parents did not show the variant. Literature review (four retrieved eligible studies, 10 patients) showed that all individuals had mild, moderate, or severe ID; language and motor delay; and autism. Short stature, microcephaly, childhood hypotonia and plagiocephaly were also present. Conclusion. Kleefstra syndrome 2 is a difficult diagnosis of a rare condition with a high clinical phenotypic heterogeneity. This study suggests that it must be taken in account in the work-up of an orphan diagnosis of intellectual disability and/or autism spectrum disorder.
PubMed: 35324822
DOI: 10.3390/pediatric14010019 -
Revista Chilena de Pediatria Dec 2020Craniosynostosis is defined as the premature fusion of one or more skull sutures, characterized by an abnormal shape of the head. It is a rare condition but should be... (Review)
Review
Craniosynostosis is defined as the premature fusion of one or more skull sutures, characterized by an abnormal shape of the head. It is a rare condition but should be recognized and timely referred to Neurosurgery in order to prevent complications. The objective of this review is to describe the most frequent clinical and genetic characteristics of this pathology, its classification according to the shape of the skull, and the most characteristic signs to achieve timely recognition. A search for scientific articles in Pubmed, Scielo, and EMBASE databases was performed using the terms craniosynostosis, plagiocephaly, scaphocephaly, and brachycephaly. We selected articles in Spanish and English that described the characteristics of the pathology and about its management, choosing systematic reviews or recommendations from scientific societies when available. Craniosynostosis may occur in isola tion or associated with other deformities. Its classification depends on the affected suture(s), leading to the characteristic shape of the skull and the presence of other malformations. This condition is usually diagnosed and referred late, which is associated with complications such as intracranial hy pertension and impaired brain development. Early surgery has less comorbidity and better esthetic results. In conclusion, the abnormal shape of the skull must raise the suspicion of craniosynostosis, even if it occurs in isolation. Surgical management before one year of life is associated with a better prognosis.
Topics: Age Factors; Brain; Child; Craniosynostoses; Humans; Skull; Time Factors
PubMed: 33861834
DOI: 10.32641/rchped.vi91i6.1470 -
Child's Nervous System : ChNS :... Dec 2021Posterior plagiocephaly (PP) is a common clinical condition in pediatric age. There are two main causes of PP: postural plagiocephaly and craniosynostosis. Early... (Review)
Review
PURPOSE
Posterior plagiocephaly (PP) is a common clinical condition in pediatric age. There are two main causes of PP: postural plagiocephaly and craniosynostosis. Early diagnosis is important, as it prevents neurological complications and emergencies. Diagnosis in the past was often made late and with imaging tests that subjected the infant to a high radiation load. Suture ultrasound does not use ionizing radiation; it is easy to perform, allows an early diagnosis, and directs toward the execution of the cranial 3D-CT scan, neurosurgical consultation, and possible intervention. The aim of the study is to describe the high sensitivity and specificity of suture ultrasound for the differential diagnosis between plagiocephaly and craniosynostosis.
METHODS
We reported our prospective experience and compared it with the data in the literature through a systematic review. The systematic review was conducted on electronic medical databases (PubMed, Embase, Cochrane Library, Scopus, and Web of Science) evaluating the published literature up to November 2020. According to Preferred Reporting Items for Systematic Reviews and Meta-ANALYSES (PRISMA statement), we identified 2 eligible studies. Additionally, according to AMSTAR 2, all included reviews have been critically rated as high quality. A total of 120 infants with abnormal skull shape were examined in NICU. All underwent clinical and ultrasound examination.
RESULTS
Of the total, 105 (87.5%) had plagiocephaly and 15 dolichocephaly/scaphocephaly (12.5%). None of these had associated other types of malformations and/or neurological disorders. The synostotic suture was identified ultrasonographically in 1 infant and subsequently confirmed by 3D CT scan (100%).
CONCLUSION
Cranial sutures ultrasonography can be considered in infants a selective, excellent screening method for the evaluation of skull shape deformities as first technique before the 3D CT scan exam and subsequent neurosurgical evaluation. Cranial suture ultrasonography should be considered part of clinical practice especially for pediatricians.
Topics: Child; Cranial Sutures; Craniosynostoses; Humans; Infant; Plagiocephaly; Prospective Studies; Skull; Sutures; Ultrasonography
PubMed: 34453581
DOI: 10.1007/s00381-021-05324-3 -
Plastic and Reconstructive Surgery.... Jun 2022Patients with deformational plagiocephaly are often referred for evaluation by a plastic surgeon. During the early COVID-19 pandemic, visits were performed predominantly...
UNLABELLED
Patients with deformational plagiocephaly are often referred for evaluation by a plastic surgeon. During the early COVID-19 pandemic, visits were performed predominantly via telehealth. This study compares costs, satisfaction, and technological considerations for telehealth and in-person consultations for plagiocephaly.
METHODS
This prospective study evaluated telehealth and in-person consultation for plagiocephaly between August 2020 and January 2021. Costs were estimated using time-driven activity-based costing (TDABC) and included personnel and facility costs. Patient-borne expenses for travel were assessed. Post-visit questionnaires administered to patients' families and providers measured satisfaction with the consult and technical issues encountered.
RESULTS
Costing analysis was performed on 20 telehealth and 11 in-person consults. Median total personnel and facility costs of providing in-person or telehealth consults were comparable ( > 0.05). Telehealth visits saved on the cost of clinic space but required significantly more of the provider's time ( < 0.05). In-person visits had an additional patient-borne travel cost of $28.64. Technical difficulties were reported among 25% (n = 5) of telehealth consults. Paired provider and patient experience questionnaires were collected from 17 consults (11 telehealth, six in-person). Overall satisfaction with care did not differ significantly between consult types or between the provider and patient family ( > 0.05).
CONCLUSIONS
Costs of providing in-person and telehealth plagiocephaly consultations were comparable, whereas patients incur greater costs when coming in person. Practices that treat patients with plagiocephaly may wish to consider expanding their virtual consult offerings to families desiring this option. Long-term outcome studies are necessary to evaluate the efficacy of both visit types.
PubMed: 35747260
DOI: 10.1097/GOX.0000000000004392 -
Diagnostics (Basel, Switzerland) Jul 2022Torticollis is not of uncommon occurrence in orthopaedic departments. Various theories and studies concerning the pathogenesis of the deformity have been suggested. We...
PURPOSE
Torticollis is not of uncommon occurrence in orthopaedic departments. Various theories and studies concerning the pathogenesis of the deformity have been suggested. We aimed to highlight and discuss the underlying cervical and spine malformation complex in correlation with torticollis via radiographic and tomographic analysis and its connection with a specific syndromic entity.
METHODS
Torticollis has been recognised in six patients (2 boys and 4 girls with an age range of 14-18 years), in addition to a couple of parents manifested persistent backpain. A variable spine malformation complex was the main reason behind torticollis. In addition, some patients manifested plagiocephaly, facial asymmetry and scoliosis/kyphoscoliosis. In some patients, conventional radiographs were of limited value because of the overlapping anatomical structures. Three-dimensional reconstruction CT scanning was the modality of choice, which enlightens the path for the phenotypic characterisation.
RESULTS
A 16-year-old-boy presented with torticollis in correlation with pathologic aberration of the spine cartilaginous stage was analysed via 3DCT scan. Comprehensive clinical and radiological phenotypes were in favour of spondylomegepiphyseal dysplasia. The genotype showed a mutation of the NKX3-2 (BAPX1) gene compatible with the diagnosis of spondylo-meg-epiphyseal-metaphyseal dysplasia. His younger male sibling and parents were heterozygous carriers. In two patients with pseudoachondroplasia syndrome, in which odontoid hypoplasia associated with cervical spine synchondrosis causing life-threatening torticollis, Cartilage oligomeric matrix protein (COMP) gene mutation was identified. MURCS syndrome has been diagnosed in two unrelated girls. Torticollis associated with cervical kyphosis was the major presentation since early childhood. Interestingly, one girl showed omovertebral bones of the lower cervical and upper thoracic spine. Her karyotype manifested a balanced translocation of 46 XX, t (14q; 15q).
CONCLUSION
To detect the underlying etiological diagnosis of torticollis, a skeletal survey was the primary diagnostic tool. Conventional radiographs of the craniocervical junction and spine resulted in confusing readings because of the overlapping anatomical structures. Cranio-cervical malformation complex could have serious neurological deficits, especially for children with indefinite diagnosis of torticollis. The widely used term of congenital muscular torticollis resulted in morbid or mortal consequences. Moreover, some patients received vigorous physical therapy on the bases of muscular torticollis. Sadly speaking, this resulted in grave complications. Understanding the imaging phenotype and the genotype in such patients is the baseline tool for precise and proper management. The value of this paper is to sensitise physicians and orthopaedic surgeons to the necessity of comprehensive clinical and radiological phenotypic characterisations in patients with long term skeletal pathology.
PubMed: 35885576
DOI: 10.3390/diagnostics12071672 -
Andes Pediatrica : Revista Chilena de... Apr 2023Since the American Academy of Pediatrics recommended the supine sleeping position for infants to prevent SIDS, positional plagiocephaly (PP) prevalence has increased.... (Review)
Review
Since the American Academy of Pediatrics recommended the supine sleeping position for infants to prevent SIDS, positional plagiocephaly (PP) prevalence has increased. There are great controversies regarding the possible consequences of PP and the degree of severity required for them to manifest. There is no consensus on the efficacy of PP therapies, such as positioning, kinesiology, and cranial orthoses. This review aims to analyze the existing literature to update the causes, main characteristics, and evidence on the treatment of PP. Intervention from the newborn period is important, encompassing both prevention and management education, as well as early screening, evaluating the possible presence of congenital muscular torticollis, to start early treatment. The presence of PP can be a risk marker for psychomotor development.
Topics: Infant; Infant, Newborn; Humans; Child; Plagiocephaly, Nonsynostotic; Sleep; Torticollis; Prevalence
PubMed: 37358106
DOI: 10.32641/andespediatr.v94i2.4665 -
Archives of Craniofacial Surgery Apr 2022Deformational plagiocephaly is usually managed conservatively, as it tends to improve over time and with the use of conservative measures. However, before the year 2017...
BACKGROUND
Deformational plagiocephaly is usually managed conservatively, as it tends to improve over time and with the use of conservative measures. However, before the year 2017 we operated on patients with severe plagiocephaly and neurological symptoms at the Helsinki Cleft Palate and Craniofacial Center.
METHODS
Of the 20 infants with severe deformational plagiocephaly and neurological symptoms referred to us between 2014 and 2016, 10 underwent cranioplasty open reshaping of the posterior cranial vault. The parents of the last 10 patients were given information on the natural history of the condition and the patients were followed up with an outpatient protocol. The aim of this study was to gain information on the brain electrophysiology and recovery of patients after total cranial vault reconstruction by measuring the electroencephalogram (EEG) somatosensory evoked potentials (SEP; median nerve).
RESULTS
Of the 10 participants in the operation arm, six had abnormal SEP at least on the affected cerebral hemisphere and all SEPs were recorded as normal when controlled postoperatively. In the follow-up arm, eight out of 10 participants had abnormal SEP at the age of approximately 24 months, and all had normalized SEPs at control visits.
CONCLUSION
Our data suggest that cranioplasty open reshaping of the posterior cranial vault did not affect abnormal SEP-EEG recordings. We have abandoned the operations in deformational plagiocephaly patients due to findings suggesting that expanding cranioplasty is not beneficial for brain function in this patient group.
PubMed: 35526840
DOI: 10.7181/acfs.2022.00157 -
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 -
Journal of Developmental and Behavioral...Previous research has suggested an association between plagiocephaly and developmental delay. However, study samples drawn from children seen in subspecialty clinics...
OBJECTIVE
Previous research has suggested an association between plagiocephaly and developmental delay. However, study samples drawn from children seen in subspecialty clinics increase the potential for selection and referral bias. Our study evaluates the association between plagiocephaly and developmental delay and the timing of these diagnoses in a primary care setting, where plagiocephaly is commonly diagnosed and managed.
METHODS
Our retrospective analysis used electronic medical record data from 45 primary care sites within a children's health system from 1999 to 2017, including children aged 0 to 5 years with diagnoses determined by physician diagnosis codes at primary care visits. Children were classified in the plagiocephaly group if diagnosis occurred by 12 months of age. Primary outcome was any developmental delay. Pearson χ2 test, Fisher exact test, and logistic regression analyses were conducted, with multivariable models adjusted for sex, race, ethnicity, insurance, prematurity status (22-36 weeks' gestation), primary care sites, birth year, and diagnoses of abnormal tone and torticollis.
RESULTS
Of 77,108 patients seen by 12 months, 2315 (3.0%) were diagnosed with plagiocephaly, with an increase in diagnosis prevalence over the study time frame. Plagiocephaly was independently associated with an increased odds of any developmental delay diagnosis (adjusted odds ratio 1.50, 95% confidence interval 1.32-1.70). The diagnosis of plagiocephaly was recorded before the diagnosis of developmental delay in most cases when both diagnoses were present (374 of 404, 92.6%).
CONCLUSION
Data from a large primary care cohort demonstrate an association between plagiocephaly and developmental delay, affirming findings in previous subspecialty literature.
Topics: Child; Cohort Studies; Humans; Infant; Plagiocephaly; Plagiocephaly, Nonsynostotic; Primary Health Care; Retrospective Studies
PubMed: 33538454
DOI: 10.1097/DBP.0000000000000860