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European Journal of Pediatrics Apr 2024The purpose of this study is to evaluate the association of Electrical Cardiometry (EC)-derived cardiac output indexed to weight (CO) and its changes during the first... (Observational Study)
Observational Study
The purpose of this study is to evaluate the association of Electrical Cardiometry (EC)-derived cardiac output indexed to weight (CO) and its changes during the first 48 h in relation to adverse short-term outcome in very preterm infants. In this prospective observational study of preterm infants < 32 weeks gestational age (GA), the combined adverse outcome was defined as mortality or abnormal cranial ultrasound (any grade intracranial hemorrhage (ICH) or periventricular leukomalacia) within the first 2 weeks postnatally. Logistic regression models were used to investigate the association between median CO and outcome and mixed-effects models for the time trajectory of CO. In the absence of device-specific thresholds for low or high CO, no thresholds were used in our analysis. Fifty-three infants (median (IQR) GA 29.0 (25.4-30.6) weeks, birthweight 1020 (745-1505) g) were included in the analysis. Median CO was 241 (197-275) mL/kg/min for the adverse outcome and 198 (175-227) mL/kg/min for normal outcome (odds ratio (OR) (95% confidence interval (95% CI)), 1.01 (1.00 to 1.03); p = 0.028). After adjustment for GA, the difference was not significant (adjusted OR (95% CI), 1.01 (0.99 to 1.02); p = 0.373). CO trajectory did not differ by outcome (p = 0.352). A post hoc analysis revealed an association between CO time trajectory and ICH ≥ grade 2. Conclusions: EC-derived CO estimates within 48 h postnatally were not independently associated with brain injury (any grade) or mortality in the first 14 days of life. CO time trajectory was found to be associated with ICH ≥ grade 2. What is Known: • Bioreactance-derived cardiac output indexed to bodyweight (CO) in the transitional period has been associated with adverse short-term outcome in preterm infants. What is New: • Electrical Cardiometry (EC)-derived CO measurements in very preterm infants during the transitional period are not independently associated with adverse outcome (death or ultrasound detected brain damage) within 2 weeks postnatally. • In the first 48 h EC-derived CO increases over time and is higher in extremely preterm infants compared to very preterm and differs from previously reported bioreactance-derived CO values.
Topics: Female; Humans; Infant, Newborn; Birth Weight; Fetal Growth Retardation; Gestational Age; Infant, Extremely Premature; Infant, Premature, Diseases; Infant, Very Low Birth Weight; Intracranial Hemorrhages
PubMed: 38189914
DOI: 10.1007/s00431-023-05387-1 -
Biochimica Et Biophysica Acta.... Mar 2024Cerebral palsy (CP) is the most common physical disability in childhood, and genetic factors play an important role in its pathogenesis. However, the genetic...
Cerebral palsy (CP) is the most common physical disability in childhood, and genetic factors play an important role in its pathogenesis. However, the genetic contributions remain incompletely elucidated. Here, we conducted a two-stage association study between 1090 CP cases and 1100 healthy controls after whole exome sequencing. The human leukocyte antigen (HLA) allelic predispositions were further analyzed in overall CP and subgroups using multivariate logistic regression. We found a strong signal in the HLA region on chromosome 6, where rs3131787 harbored the most significant association with CP (P = 2.05 × 10, OR = 2.22). In comparison to controls, the carrier frequencies of HLA-B*13:02 were significantly higher in children with CP (9.82 % in control vs 19.27 % in CP, P = 1.03 × 10, OR = 2.17). Furthermore, the effect of HLA-B*13:02 on increasing the risk of CP mainly existed in cryptogenic CP without exposure to premature birth, low birth weight, birth asphyxia, or periventricular leukomalacia. This study indicated a strong association of HLA variants with CP, which implied that immune dysregulation resulting from immunogenetic variants might underlie the pathogenesis of CP. Our findings provide genetic evidence that an immunomodulator may serve as a promising therapeutic intervention for patients with CP by reinstating the neuroinflammation hemostasis.
Topics: Infant, Newborn; Child; Pregnancy; Female; Humans; Cerebral Palsy; Infant, Low Birth Weight; Pregnancy Complications; Genotype; HLA-B Antigens
PubMed: 38163449
DOI: 10.1016/j.bbadis.2023.167008 -
Prenatal Diagnosis Mar 2024Raine syndrome (MIM 259775) is a rare autosomal recessive disorder, first described by Raine et al. in 1989, with an estimated prevalence of <1/1,000,000. This is due...
Raine syndrome (MIM 259775) is a rare autosomal recessive disorder, first described by Raine et al. in 1989, with an estimated prevalence of <1/1,000,000. This is due to pathogenic variants in FAM20C characterized by osteosclerosis, typical craniofacial features, and brain calcifications. Here, we report a novel variant in FAM20C, describe a uniquely severe craniofacial and CNS phenotype of Raine syndrome, and correlate it with prenatal findings. Fetal phenotyping was based on ultrasound and MRI. Solo exome sequencing was performed from DNA extracted from postmortem skin biopsy. Targeted parental variant testing was subsequently performed. A homozygous missense variant NM_020223.4 (c.1445 G > A (p.Gly482Glu)) was identified in FAM20C associated with Raine syndrome. The infant had the characteristic dysmorphic features seen in Raine syndrome. He had particularly significant CNS manifestations consisting of multisuture craniosynostosis with protrusion of the brain parenchyma through fontanelles and cranial lacunae. Histological sections of the brain showed marked periventricular gliosis with regions of infarction, hemorrhage, and cavitation with global periventricular leukomalacia. Numerous dystrophic calcifications were diffusely present. Here, we demonstrate the identification of a novel variant in FAM20C in an infant with the characteristic features seen in Raine syndrome. The patient expands the characteristic phenotype of Raine syndrome to include a uniquely severe CNS phenotype, first identified on prenatal imaging.
Topics: Male; Infant; Humans; Pregnancy; Female; Extracellular Matrix Proteins; Casein Kinase I; Osteosclerosis; Brain Diseases; Brain; Phenotype; Synostosis; Skull; Craniofacial Abnormalities; Abnormalities, Multiple; Cleft Palate; Exophthalmos; Microcephaly
PubMed: 38163266
DOI: 10.1002/pd.6506 -
Frontiers in Pediatrics 2023Acute intestinal diseases (AID), including necrotizing enterocolitis and spontaneous intestinal perforation, are a group of conditions that typically present in preterm...
INTRODUCTION
Acute intestinal diseases (AID), including necrotizing enterocolitis and spontaneous intestinal perforation, are a group of conditions that typically present in preterm infants, and are associated with an elevated mortality and morbidity rate. The risk factors for these diseases remain largely unknown. The aim of the study is to identify the correlation between twinning and the development of AID.
METHODS
A single-center retrospective case-control study was conducted. We recruited all infants with a diagnosis of AID, confirmed by anatomopathology, recovered in NICU between 2010 and 2020. Considering the rarity of the outcome, 4 matched controls for each subject were randomly chosen from the overall population of newborns. Odds Ratio (OR) and 95% Confidence Interval (CI) were calculated using a conditional logistic regression model and a multivariate model by the creation of a Directed Acyclic Graph (www.dagitty.net).
RESULTS
The study population resulted in 65 cases and 260 controls. The two groups present similar median gestational age and mean birthweight in grams. The cases have a higher frequency of neonatal pathology (defined as at least one of patent ductus arteriosus, early or late sepsis, severe respiratory distress) (84.6% vs. 51.9%), medically assisted procreation (33.8% vs. 18.8%) and periventricular leukomalacia (10.8% vs. 2.7%), and a lower frequency of steroids prophylaxis (67.7% vs. 86.9%). About 50% of cases needed surgery. The OR for the direct effect were difference from one using logistic regression booth without and with repeated measures statements: from 1.14 to 4.21 ( = .019) and from 1.16 to 4.29 ( = .016), respectively.
CONCLUSIONS
Our study suggests that twinning may be a risk factor for the development of AID. Due to the small number of cases observed, further studies on larger populations are needed.
PubMed: 38161432
DOI: 10.3389/fped.2023.1308538 -
Zhonghua Er Ke Za Zhi = Chinese Journal... Jan 2024To describe the current status and trends in the outcomes and care practices of extremely preterm infants at 22-25 weeks' gestation age from the Chinese Neonatal...
To describe the current status and trends in the outcomes and care practices of extremely preterm infants at 22-25 weeks' gestation age from the Chinese Neonatal Network (CHNN) from 2019 to 2021. This cross-sectional study used data from the CHNN cohort of very preterm infants. All 963 extremely preterm infants with gestational age between 22-25 weeks who were admitted to neonatal intensive care units (NICU) of the CHNN from 2019 to 2021 were included. Infants admitted after 24 hours of life or transferred to non-CHNN hospitals were excluded. Perinatal care practices, survival rates, incidences of major morbidities, and NICU treatments were described according to different gestational age groups and admission years. Comparison among gestational age groups was conducted using and Kruskal-Wallis tests. Trends by year were evaluated by Cochran-Armitage and Jonckheere-Terpstra tests for trend. Of the 963 extremely preterm infants enrolled, 588 extremely preterm infants (61.1%) were male. The gestational age was 25.0 (24.4, 25.6) weeks, with 29 extremely preterm infants (3.0%), 88 extremely preterm infants (9.1%), 264 extremely preterm infants (27.4%), and 582 extremely preterm infants (60.4%) at 22, 23, 24, and 25 weeks of gestation age, respectively. The birth weight was 770 (680, 840) g. From 2019 to 2021, the number of extremely preterm infants increased each year (285, 312, and 366 extremely preterm infants, respectively). Antenatal steroids and magnesium sulfate were administered to 67.7% (615/908) and 51.1% (453/886) mothers of extremely preterm infants. In the delivery room, 20.8% (200/963) and 69.5% (669/963) extremely preterm infants received noninvasive positive end-expiratory pressure support and endotracheal intubation. Delayed cord clamping and cord milking were performed in 19.0% (149/784) and 30.4% (241/794) extremely preterm infants. From 2019 to 2021, there were significant increases in the usage of antenatal steroids, antenatal magnesium sulfate, and delivery room noninvasive positive-end expiratory pressure support (all <0.05). Overall, 349 extremely preterm infants (36.2%) did not receive complete care, 392 extremely preterm infants (40.7%) received complete care and survived to discharge, and 222 extremely preterm infants (23.1%) received complete care but died in hospital. The survival rates for extremely preterm infants at 22, 23, 24 and 25 weeks of gestation age were 10.3% (3/29), 23.9% (21/88), 33.0% (87/264) and 48.3% (281/582), respectively. From 2019 to 2021, there were no statistically significant trends in complete care, survival, and mortality rates (all >0.05). Only 11.5% (45/392) extremely preterm infants survived without major morbidities. Moderate to severe bronchopulmonary dysplasia (67.3% (264/392)) and severe retinopathy of prematurity (61.5% (241/392)) were the most common morbidities among survivors. The incidences of severe intraventricular hemorrhage or periventricular leukomalacia, necrotizing enterocolitis, and sepsis were 15.3% (60/392), 5.9% (23/392) and 19.1% (75/392), respectively. Overall, 83.7% (328/392) survivors received invasive ventilation during hospitalization, with a duration of 22 (10, 42) days. The hospital stay for survivors was 97 (86, 116) days. With the increasing number of extremely preterm infants at 22-25 weeks' gestation admitted to CHNN NICU, the survival rate remained low, especially the rate of survival without major morbidities. Further quality improvement initiatives are needed to facilitate the implementation of evidence-based care practices.
Topics: Infant; Infant, Newborn; Male; Humans; Female; Pregnancy; Infant, Extremely Premature; Gestational Age; Magnesium Sulfate; Cross-Sectional Studies; Infant, Premature, Diseases; Infant, Newborn, Diseases; Steroids; Intensive Care Units, Neonatal; China
PubMed: 38154973
DOI: 10.3760/cma.j.cn112140-20231017-00296 -
Neuroradiology Feb 2024Preterm children with cerebral palsy (CP) often have varying hand dysfunction, while the specific brain injury with periventricular leukomalacia (PVL) cannot quite...
PURPOSE
Preterm children with cerebral palsy (CP) often have varying hand dysfunction, while the specific brain injury with periventricular leukomalacia (PVL) cannot quite explain its mechanism. We aimed to investigate glymphatic activity using diffusion tensor image analysis along the perivascular space (DTI-ALPS) method and evaluate its association with brain lesion burden and hand dysfunction in children with CP secondary to PVL.
METHODS
We retrospectively enrolled 18 children with bilateral spastic CP due to PVL and 29 age- and sex-matched typically developing controls. The Manual Ability Classification System (MACS) was used to assess severity of hand dysfunction in CP. A mediation model was performed to explore the relationship among the DTI-ALPS index, brain lesion burden, and the MACS level in children with CP.
RESULTS
There were significant differences in the DTI-ALPS index between children with CP and their typically developing peers. The DTI-ALPS index of the children with CP was lower than that of the controls (1.448 vs. 1.625, P = 0.003). The mediation analysis showed that the DTI-ALPS index fully mediated the relationship between brain lesion burden and the MACS level (c' = 0.061, P = 0.665), explaining 80% of the effect.
CONCLUSION
This study provides new insights into the neural basis of hand dysfunction in children with CP, demonstrating an important role of glymphatic impairment in such patients. These results suggest that PVL might affect hand function in children with CP by disrupting glymphatic drainage.
Topics: Child; Infant, Newborn; Humans; Cerebral Palsy; Leukomalacia, Periventricular; Glymphatic System; Retrospective Studies; Hand
PubMed: 38129651
DOI: 10.1007/s00234-023-03269-9 -
Archives of Gynecology and Obstetrics Apr 2024The mode of delivery for twins born before 32 weeks of gestation remains controversial. Our purpose is to conduct a meta-analysis of twin pregnancies less than... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The mode of delivery for twins born before 32 weeks of gestation remains controversial. Our purpose is to conduct a meta-analysis of twin pregnancies less than 32 weeks or twin weight less than 1500 g, so as to find a suitable delivery mode.
METHODS
We searched PubMed database, Cochrane Library database, and EMBASE database through December 2022. This protocol was registered with PROSPERO (CRD42023386946) prior to initiation. Studies that compared vaginal delivery to cesarean section for newborns less than 32 weeks of gestation or birthweight under 1500 g were included. The primary result was neonatal mortality rate. Secondary result was neonatal morbidity. The quality of literatures included in the research was evaluated in accordance with Newcastle-Ottawa Scale (NOS) literature quality evaluation scale. We use odds ratio (OR) as the effect index for binary variables. Point estimates and 95% confidence intervals (95% CI) were calculated. P < 0. 05 indicated statistically significant difference.
RESULTS
Our search generated 5310 articles, and a total of 8 articles comprising a total of 14,703 newborns were included in the analysis. The odds ratios of neonatal mortality rate were for twins delivered by vaginal delivery compared to cesarean section were 0.84 (95% CI 0.57-1.24, P = 0.38). The 5-min Apgar score < 7 (95% CI 0.44-1.75, P = 0.72), necrotizing enterocolitis (95% CI 0.81-1.19, P = 0.82), intraventricular hemorrhage (95% CI 0.41-1.86, P = 0.71), periventricular leukomalacia (95% CI 0.16-4.52, P = 0.84), bronchopulmonary dysplasia (95% CI 0.88-1.36, P = 0.42), and respiratory distress syndrome (95% CI 0.23-2.01, P = 0.48) were not statistically significant between the two groups.
CONCLUSION
We have observed that vaginal delivery does not confer an increased risk of neonatal morbidity and mortality in twins born before 32 weeks of gestation. However, the current results are affected by substantial heterogeneity and confounding factors. We still need high-quality randomized-controlled studies require to address this important question.
Topics: Infant, Newborn; Pregnancy; Humans; Female; Cesarean Section; Birth Weight; Delivery, Obstetric; Twins; Pregnancy, Twin
PubMed: 38066342
DOI: 10.1007/s00404-023-07307-y -
The Cochrane Database of Systematic... Nov 2023Many preterm infants require respiratory support to maintain an optimal level of oxygenation, as oxygen levels both below and above the optimal range are associated with... (Review)
Review
BACKGROUND
Many preterm infants require respiratory support to maintain an optimal level of oxygenation, as oxygen levels both below and above the optimal range are associated with adverse outcomes. Optimal titration of oxygen therapy for these infants presents a major challenge, especially in neonatal intensive care units (NICUs) with suboptimal staffing. Devices that offer automated oxygen delivery during respiratory support of neonates have been developed since the 1970s, and individual trials have evaluated their effectiveness.
OBJECTIVES
To assess the benefits and harms of automated oxygen delivery systems, embedded within a ventilator or oxygen delivery device, for preterm infants with respiratory dysfunction who require respiratory support or supplemental oxygen therapy.
SEARCH METHODS
We searched CENTRAL, MEDLINE, CINAHL, and clinical trials databases without language or publication date restrictions on 23 January 2023. We also checked the reference lists of retrieved articles for other potentially eligible trials.
SELECTION CRITERIA
We included randomised controlled trials and randomised cross-over trials that compared automated oxygen delivery versus manual oxygen delivery, or that compared different automated oxygen delivery systems head-to-head, in preterm infants (born before 37 weeks' gestation).
DATA COLLECTION AND ANALYSIS
We used standard Cochrane methods. Our main outcomes were time (%) in desired oxygen saturation (SpO) range, all-cause in-hospital mortality by 36 weeks' postmenstrual age, severe retinopathy of prematurity (ROP), and neurodevelopmental outcomes at approximately two years' corrected age. We expressed our results using mean difference (MD), standardised mean difference (SMD), and risk ratio (RR) with 95% confidence intervals (CIs). We used GRADE to assess the certainty of evidence.
MAIN RESULTS
We included 18 studies (27 reports, 457 infants), of which 13 (339 infants) contributed data to meta-analyses. We identified 13 ongoing studies. We evaluated three comparisons: automated oxygen delivery versus routine manual oxygen delivery (16 studies), automated oxygen delivery versus enhanced manual oxygen delivery with increased staffing (three studies), and one automated system versus another (two studies). Most studies were at low risk of bias for blinding of personnel and outcome assessment, incomplete outcome data, and selective outcome reporting; and half of studies were at low risk of bias for random sequence generation and allocation concealment. However, most were at high risk of bias in an important domain specific to cross-over trials, as only two of 16 cross-over trials provided separate outcome data for each period of the intervention (before and after cross-over). Automated oxygen delivery versus routine manual oxygen delivery Automated delivery compared with routine manual oxygen delivery probably increases time (%) in the desired SpO range (MD 13.54%, 95% CI 11.69 to 15.39; I = 80%; 11 studies, 284 infants; moderate-certainty evidence). No studies assessed in-hospital mortality. Automated oxygen delivery compared to routine manual oxygen delivery may have little or no effect on risk of severe ROP (RR 0.24, 95% CI 0.03 to 1.94; 1 study, 39 infants; low-certainty evidence). No studies assessed neurodevelopmental outcomes. Automated oxygen delivery versus enhanced manual oxygen delivery There may be no clear difference in time (%) in the desired SpO range between infants who receive automated oxygen delivery and infants who receive manual oxygen delivery (MD 7.28%, 95% CI -1.63 to 16.19; I = 0%; 2 studies, 19 infants; low-certainty evidence). No studies assessed in-hospital mortality, severe ROP, or neurodevelopmental outcomes. Revised closed-loop automatic control algorithm (CLACfast) versus original closed-loop automatic control algorithm (CLACslow) CLACfast allowed up to 120 automated adjustments per hour, whereas CLACslow allowed up to 20 automated adjustments per hour. CLACfast may result in little or no difference in time (%) in the desired SpO range compared to CLACslow (MD 3.00%, 95% CI -3.99 to 9.99; 1 study, 19 infants; low-certainty evidence). No studies assessed in-hospital mortality, severe ROP, or neurodevelopmental outcomes. OxyGenie compared to CLiO Data from a single small study were presented as medians and interquartile ranges and were not suitable for meta-analysis.
AUTHORS' CONCLUSIONS
Automated oxygen delivery compared to routine manual oxygen delivery probably increases time in desired SpO ranges in preterm infants on respiratory support. However, it is unclear whether this translates into important clinical benefits. The evidence on clinical outcomes such as severe retinopathy of prematurity are of low certainty, with little or no differences between groups. There is insufficient evidence to reach any firm conclusions on the effectiveness of automated oxygen delivery compared to enhanced manual oxygen delivery or CLACfast compared to CLACslow. Future studies should include important short- and long-term clinical outcomes such as mortality, severe ROP, bronchopulmonary dysplasia/chronic lung disease, intraventricular haemorrhage, periventricular leukomalacia, patent ductus arteriosus, necrotising enterocolitis, and long-term neurodevelopmental outcomes. The ideal study design for this evaluation is a parallel-group randomised controlled trial. Studies should clearly describe staffing levels, especially in the manual arm, to enable an assessment of reproducibility according to resources in various settings. The data of the 13 ongoing studies, when made available, may change our conclusions, including the implications for practice and research.
Topics: Humans; Infant; Infant, Newborn; Bronchopulmonary Dysplasia; Infant, Premature; Oxygen; Randomized Controlled Trials as Topic; Reproducibility of Results; Retinopathy of Prematurity
PubMed: 38032241
DOI: 10.1002/14651858.CD013294.pub2 -
Ultrasound in Obstetrics & Gynecology :... Jun 2024To examine infant outcomes at 3 years of age in monochorionic twin pregnancies with Type-II or -III selective fetal growth restriction (sFGR) and isolated...
Infant outcome at 3 years of age of monochorionic twins with Type-II or -III selective fetal growth restriction and isolated oligohydramnios that underwent fetoscopic laser photocoagulation.
OBJECTIVE
To examine infant outcomes at 3 years of age in monochorionic twin pregnancies with Type-II or -III selective fetal growth restriction (sFGR) and isolated oligohydramnios who underwent fetoscopic laser photocoagulation (FLP).
METHODS
This multicenter prospective cohort study included monochorionic diamniotic twins that underwent FLP for sFGR between 16 and 25 weeks' gestation. The indication for performing FLP was Type-II or -III sFGR with oligohydramnios of the growth-restricted (FGR) twin in which the maximum vertical pocket of amniotic fluid was ≤ 2 cm. This was done in the absence of a typical diagnosis of twin-twin transfusion syndrome. The primary outcome was intact survival rate of both infants at the corrected gestational age of 40 weeks and at 3 years of age. Intact survival at the corrected age of 40 weeks was defined as survival without Grade-III or -IV intraventricular hemorrhage or cystic periventricular leukomalacia. Intact survival at 3 years of age was defined as survival without neurodevelopmental morbidity, which included cerebral palsy, neurodevelopmental impairment with a total developmental quotient of < 70, bilateral deafness or bilateral blindness.
RESULTS
Among 45 patients with sFGR, 30 (66.7%) were classified as having Type-II and 15 (33.3%) as Type-III sFGR. The prevalence of intact survival at the corrected age of 40 weeks was 51.1% (n = 23) in FGR twins and 95.5% (n = 42) in larger twins. The prevalence of intact survival at 3 years of age was 46.7% (n = 21) in FGR twins and 86.4% (n = 38) in larger twins. There was one case of miscarriage. Among the 24 FGR twins who were not classified as having intact survival at 3 years of age, 22 (91.7%) cases suffered fetal or infant demise (other than miscarriage), and there was one case of neurodevelopmental impairment. All larger twins who were not diagnosed with intact survival at 3 years of age (n = 6 (13.6%)) had neurological morbidity.
CONCLUSIONS
FGR twins and their larger cotwins, when subjected to FLP owing to sFGR coupled with umbilical artery Doppler abnormalities and isolated oligohydramnios, exhibit low rates of neurological morbidity and low mortality, respectively. Therefore, FLP for Type-II or -III sFGR with oligohydramnios may be a feasible management option and one that is preferable to expectant management. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Humans; Female; Pregnancy; Fetal Growth Retardation; Fetoscopy; Prospective Studies; Laser Coagulation; Oligohydramnios; Twins, Monozygotic; Infant, Newborn; Child, Preschool; Pregnancy, Twin; Gestational Age; Treatment Outcome; Male; Adult; Fetofetal Transfusion; Pregnancy Outcome
PubMed: 38031151
DOI: 10.1002/uog.27551 -
Annals of Clinical and Laboratory... Sep 2023In 2015, germline mutations in were found to cause neurodevelopmental disorders (NDDs). To date, fewer than 50 cases of -related NDDs have been reported. Here, we... (Review)
Review
In 2015, germline mutations in were found to cause neurodevelopmental disorders (NDDs). To date, fewer than 50 cases of -related NDDs have been reported. Here, we report the first Korean case of -related NDD harboring a novel missense variant with previously unreported clinical features. The proband, a 12-month-old female, presented with developmental delay, intractable epilepsy, microcephaly, and feeding difficulties. Brain magnetic resonance imaging showed a Dandy-Walker continuum with corpus callosum hypoplasia, periventricular leukomalacia, and brainstem and diffuse cerebral atrophy. Next-generation sequencing-based targeted gene panel testing for NDDs revealed a novel heterozygous missense variant of :c.650A>G, p.(Gln217Arg). Sanger sequencing confirmed it as , as neither parent carried this variant. These findings expand the phenotypic and genotypic spectra of variants.
Topics: Female; Humans; Infant; Brain; Mutation, Missense; Neurodevelopmental Disorders; Phenotype; Protein Phosphatase 2; Republic of Korea; Transcription Factors
PubMed: 37945024
DOI: No ID Found