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1.
BMC Pediatr ; 24(1): 380, 2024 Jun 01.
Article En | MEDLINE | ID: mdl-38824506

BACKGROUND: The survival rate of children with biliary atresia (BA) after liver transplantation (LT) is significantly improved, and their quality of life has attracted much attention.This study aimed to investigate the cognition and its influencing factors in children with BA after primary living donor LT (BA-pLDLT) during infancy. METHODS: Children with BA were recruited 6 months after pLDLT at Children's Hospital of Chongqing Medical University (2018-2022). Demographic and clinical data were collected from the health information system. Cognition was assessed using the Chinese version of the Griffiths Mental Development scale (GMDS-C). Multivariate linear regression were used to analyze the influencing factors of their cognitive function. RESULTS: In total, 57 children with BA-pLDLT, aged 5.00(3.90-9.30) months at transplantation and 25.00(14.00-60.80) months at evaluation were included. The general developmental quotient (89.02 ± 12.07) and motor, language, eye-hand coordination, performance, and practical reasoning quotients of these children were significantly lower than the normative mean values of GMDS-C(P < 0.05). Of the 57 children, 16 (28.07%) had borderline developmental delay (DQ between 70 and 84), 3 (5.26%) had developmental delay (DQ < 70), and 11(19.29%) had language delay. Reoperation for biliary or vascular complications after pLDLT was a risk factor for decreased general development quotient and motor quotient and lower ZW at assessment was associated with decline motor quotient. CONCLUSION: Children with BA-pLDLT have varying degrees of developmental delays in early life. Reoperation and nutritional deficiencies had adverse effects on cognitive development.


Biliary Atresia , Cognition , Liver Transplantation , Living Donors , Humans , Biliary Atresia/surgery , Liver Transplantation/adverse effects , Male , Female , Infant , Child, Preschool , Developmental Disabilities/etiology
2.
Pediatrics ; 153(6)2024 Jun 01.
Article En | MEDLINE | ID: mdl-38808412

Molybdenum cofactor deficiency classically presents in neonates with intractable seizures; however, milder cases generally present before age 2 years with developmental delays and may go undiagnosed. Early diagnosis, and safe, US Food and Drug Administration-approved substrate replacement are critical to preserve neurologic function. This article discusses 2 children who presented with late-onset molybdenum cofactor deficiency type A.


Developmental Disabilities , Metal Metabolism, Inborn Errors , Humans , Metal Metabolism, Inborn Errors/complications , Metal Metabolism, Inborn Errors/diagnosis , Developmental Disabilities/etiology , Developmental Disabilities/diagnosis , Male , Female , Infant , Child, Preschool , Molybdoferredoxin
3.
BMC Pediatr ; 24(1): 373, 2024 May 30.
Article En | MEDLINE | ID: mdl-38811876

BACKGROUND: Sleep has been known to affect childhood development. Sleep disturbance is likely more common in children with developmental delay (DD) than in typical development. There are few studies on the correlation between sleep disturbance and developmental features in children with DD. Therefore, this study aimed to evaluate the associations between the two in children with DD. METHODS: A total of 45 children (age range 27.0 ± 11.1) with DD were recruited and evaluated using the Sleep Disturbance Scale for Children (SDSC) and Bayley Scales of Infant and Toddler Development (BSID-III). The outcomes are expressed as means and standard deviations. The correlation between SDSC and BSID-III was assessed using Spearman's rank correlation test. Multiple regression analysis was performed to investigate the relationship between BSID-III domains and SDSC questionnaire subscales. Statistical significance was set at p < 0.05. RESULTS: Based on the correlation analysis and subsequent hierarchical regression analysis, cognition and socio-emotional domains of BSID-III were significantly associated with the DOES subscale of the SDSC questionnaire. In addition, the expressive language domain of the BSID-III was found to be associated with the DA subscale of the SDSC questionnaire. It seems that excessive daytime sleepiness might negatively affect emotional and behavioral problems and cognitive function. Also, arousal disorders seem to be related to memory consolidation process, which is thought to affect language expression. CONCLUSION: This study demonstrated that DA and DOES subscales of the SDSC questionnaire were correlated with developmental aspects in preschool-aged children with DD. Sleep problems in children with DD can negatively affect their development, thereby interfering with the effectiveness of rehabilitation. Identifying and properly managing the modifiable factors of sleep problems is also crucial as a part of comprehensive rehabilitation treatment. Therefore, we should pay more attention to sleep problems, even in preschool-aged children with DD.


Child Development , Developmental Disabilities , Sleep Wake Disorders , Humans , Child, Preschool , Male , Female , Developmental Disabilities/etiology , Sleep Wake Disorders/etiology , Cognition , Infant
4.
Pediatr Surg Int ; 40(1): 120, 2024 May 04.
Article En | MEDLINE | ID: mdl-38702423

PURPOSE: To assess the neurodevelopment outcomes of children younger than 42 months of age with intestinal failure (IF) using prolonged parenteral nutrition (PN) followed by a Pediatric Multidisciplinary Intestinal Rehabilitation Program from a public tertiary hospital in Brazil. METHODS: Bayley III scale was administered in children aged 2 to 42 months with IF and receiving PN for more than 60 days. Composite scores in cognitive, motor, and language domains were analyzed. Developmental delay was defined as a performance 2 standard deviations (SD) below the average at the 3 domains. Association between Bayley III composite scores and clinical variables related to IF were tested. RESULTS: Twenty-four children with median (IQR) age of 17.5 months (9-28.5) were studied, 58.3% were male. Developmental delay was found in 34%, 33% and 27% of the patients in cognitive, motor, and language domains, respectively. There was no significant association between the Bayley-III composite scores and length of hospitalization, prematurity, and number of surgical procedures with anesthesia. CONCLUSION: The study demonstrated impairments in the cognitive, motor and language domains in approximately one-third of young patients with IF on prolonged PN.


Intestinal Failure , Parenteral Nutrition , Humans , Male , Female , Brazil/epidemiology , Infant , Parenteral Nutrition/methods , Parenteral Nutrition/statistics & numerical data , Child, Preschool , Developmental Disabilities/etiology , Neurodevelopmental Disorders/epidemiology , Neurodevelopmental Disorders/etiology
5.
Sci Rep ; 14(1): 11851, 2024 05 24.
Article En | MEDLINE | ID: mdl-38789553

It is unclear if SARS CoV-2 infection during pregnancy is associated with adverse neurodevelopmental repercussions to infants. We assessed pediatric neurodevelopmental outcomes in children born to mothers with laboratory-confirmed SARS CoV-2 infection during pregnancy. Neurodevelopmental outcomes of in-utero exposed children were compared to that of pre-pandemic control children in Los Angeles (LA), CA, USA and Rio de Janeiro, Brazil. Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III), the gold standard tool for evaluating neurodevelopment until 36 months of age and Ages and Stages Questionnaires (ASQ-3), a frequently used screening instrument for evaluating neurodevelopment in this same age group were the assessment tools used. Developmental delay (DD) was defined as having a score < - 2 SD below the norm (< 70) in at least one of three Bayley-III domains, (cognitive, motor or language) or a score below the cut-off (dark zone) in at least one of five ASQ-3 domains (communication, gross motor, fine motor, problem solving, personal-social). Exposed children were born between April 2020 and December 2022 while control children were born between January 2016 to December 2019. Neurodevelopmental testing was performed in 300 children total: 172 COVID-19 exposed children between 5-30 months of age and 128 control children between 6-38 months of age. Bayley-III results demonstrated that 12 of 128 exposed children (9.4%) had DD versus 2 of 128 controls (1.6%), p = 0.0007. Eight of 44 additional exposed children had DD on ASQ-3 testing. Fully, 20 of 172 exposed children (11.6%) and 2 of 128 control children (1.6%), p = 0.0006 had DD. In Rio, 12% of exposed children versus 2.6% of controls, p = 0.02 had DD. In LA, 5.7% of exposed children versus 0 controls, p = 0.12 had DD. Severe/critical maternal COVID-19 predicted below average neurodevelopment in the exposed cohort (OR 2.6, 95% CI 1.1-6.4). Children exposed to antenatal COVID-19 have a tenfold higher frequency of DD as compared to controls and should be offered neurodevelopmental follow-up.


COVID-19 , Developmental Disabilities , Pregnancy Complications, Infectious , Prenatal Exposure Delayed Effects , SARS-CoV-2 , Humans , Female , COVID-19/epidemiology , Pregnancy , Child, Preschool , Infant , Male , Developmental Disabilities/etiology , Developmental Disabilities/virology , Developmental Disabilities/epidemiology , SARS-CoV-2/isolation & purification , Brazil/epidemiology , Pregnancy Complications, Infectious/virology , Prenatal Exposure Delayed Effects/virology , Adult , Neurodevelopmental Disorders/etiology , Neurodevelopmental Disorders/virology , Child Development , Los Angeles/epidemiology
6.
BMC Public Health ; 24(1): 989, 2024 Apr 09.
Article En | MEDLINE | ID: mdl-38594741

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic has had a significant impact on the neurodevelopment of children. However, the precise effects of the virus and the social consequences of the pandemic on pediatric neurodevelopment are not yet fully understood. We aimed to compare the neurodevelopment of children between before and during the COVID-19 pandemic, as well as examine the impact of socioeconomic status (SES) and regional differences on the development. METHODS: The study used the Korean Developmental Screening Test to compare the difference in the risk of neurodevelopmental delay between before and during the COVID-19 pandemic. Multivariable logistic regression analysis was conducted to identify the relationship between experiencing the COVID-19 pandemic and the risk of neurodevelopmental delay. Stratified analyses were performed to determine whether the developmental delays caused by the pandemic's impact varied depending on SES or regional inequality. RESULTS: This study found an association between the experience of COVID-19 and a higher risk of neurodevelopmental delay in communication (adjusted OR [aOR]: 1.21, 95% confidence interval [CI]: 1.19, 1.22; P-value: < 0.0001) and social interaction (aOR: 1.15, 95% CI: 1.13, 1.17; P-value: < 0.0001) domains among children of 30-36 months' ages. Notably, the observed association in the Medicaid group of children indicates a higher risk of neurodevelopmental delay compared to those in the non-Medicaid group. CONCLUSIONS: These findings highlight the need to be concerned about the neurodevelopment of children who experienced the COVID-19 pandemic. The study also calls for increased training and support for Medicaid children, parents, teachers, and healthcare practitioners. Additionally, policy programs focused on groups vulnerable to developmental delays are required.


COVID-19 , Pandemics , Infant , Humans , Child , Developmental Disabilities/epidemiology , Developmental Disabilities/etiology , COVID-19/epidemiology , Child Development , Parents
8.
Pediatr Blood Cancer ; 71(7): e31046, 2024 Jul.
Article En | MEDLINE | ID: mdl-38679847

PURPOSE: Infancy/toddlerhood is a period of rapid development. All infants/toddlers (0-36 months-of-age) undergoing cancer-directed treatment at one hospital are offered developmental assessments and related services. Yet, literature comparing development of infants/toddlers with brain tumors to those with non-CNS solid tumors is sparse. DESIGN AND METHODS: Developmental assessment data were abstracted from electronic health records of infants/toddlers undergoing treatment for a brain tumor (n = 36; mean age = 21.83 ± 9.96 months) or a solid tumor (n = 40; mean age = 17.35 ± 8.50). Z-scores compared obtained data with age expectations. Chi-square analyses assessed whether a greater proportion of participants scored within the clinical range than normative expectations. Multivariate analysis of variance and chi-square analyses compared developmental outcomes between groups. RESULTS: Compared with age expectations, the overall group demonstrated significantly less well-developed skills. Infants/toddlers with solid tumors demonstrated clinical deficits at rates higher than expected for most domains; the rate of impairment for the solid tumor group did not differ significantly from that of the brain tumor group across most subtests. CONCLUSIONS: Like young patients with brain tumors, the developmental functioning of infants/toddlers with solid tumors should be studied across time to determine the trajectory of functioning for these young patients and to inform future developmental intervention studies. PRACTICE IMPLICATIONS: Infants/toddlers with a malignant solid tumor may be at increased risk for delayed development. These very young patients would likely benefit from developmental assessment, early intervention services during and after treatment, and ongoing monitoring of development across time.


Brain Neoplasms , Humans , Infant , Brain Neoplasms/pathology , Brain Neoplasms/therapy , Male , Female , Child, Preschool , Infant, Newborn , Child Development , Neoplasms/pathology , Neoplasms/therapy , Follow-Up Studies , Developmental Disabilities/etiology , Prognosis
9.
Pediatr Neurol ; 155: 62-67, 2024 Jun.
Article En | MEDLINE | ID: mdl-38603983

BACKGROUND: The TAND (Tuberous Sclerosis Complex [TSC]-Associated Neuropsychiatric Disorders) Checklist was developed as a clinical screener for neurodevelopmental disorders in TSC. Most studies have described patterns in older children and adults. This study sought to better understand behavioral concerns as measured by the TAND Checklist in young children with TSC. METHODS: We examined patterns of caregiver responses to the TAND Checklist in 90 toddlers with TSC (12 to 23 months n = 60; 24 to 36 months n = 30) through data collected during baseline visits across two TSC early intervention studies. RESULTS: Over 90% of caregivers reported at least one behavioral concern related to TAND. The number of concerns increased with age. Delayed language was the most frequently reported concern across ages (12 to 23 months: 58.3%, 24 to 36 months: 86.7%). Questions related to behavioral concerns were largely relevant in this age range, but questions in other areas, such as neuropsychological or academic function, were not. CONCLUSIONS: TAND symptoms are very common in toddlers with TSC, and these symptoms may increase with age. The TAND Checklist is a useful tool for identifying behavioral concerns efficiently, but several items and sections are not suited to younger children. Results support the development of an abbreviated form of the TAND Checklist for toddlers.


Checklist , Tuberous Sclerosis , Humans , Tuberous Sclerosis/complications , Tuberous Sclerosis/diagnosis , Infant , Male , Female , Child, Preschool , Checklist/standards , Developmental Disabilities/etiology , Developmental Disabilities/diagnosis
10.
Pediatr Neurol ; 155: 167-170, 2024 Jun.
Article En | MEDLINE | ID: mdl-38663153

BACKGROUND: The majority of the estimated 50 to 100 million children living with disability worldwide reside in low- or middle-income countries. As families migrate to avoid humanitarian crises, children with developmental disability and delay warrant particular attention in refugee and international health settings. During transitions, medical documentation may be lost and diagnoses may not be fully understood, contributing to the challenges of determining etiologies of motor impairment. METHODS: Of the first 100 refugee children who were referred to the Child Development Clinic, we identified a subset of children referred for motor impairment or cerebral palsy. Data on their presentation, diagnoses following evaluation, and therapeutic services required was collected by retrospective chart review. RESULTS: Twenty children were referred for motor impairment and cerebral palsy. Average age was 8.9 years; 45% were female. Eight children were eventually diagnosed with cerebral palsy, and 12 had alternate or inconclusive diagnoses. Microcephaly was more common in children diagnosed with cerebral palsy. CONCLUSIONS: The frequent differences between referral and final diagnoses in refugee children referred for cerebral palsy highlights the need for pediatricians' careful examination and diagnostic reasoning upon initial presentation.


Cerebral Palsy , Referral and Consultation , Humans , Cerebral Palsy/diagnosis , Female , Male , Child , Retrospective Studies , Child, Preschool , Refugees , Developmental Disabilities/diagnosis , Developmental Disabilities/etiology , Adolescent
11.
Acta Paediatr ; 113(6): 1278-1287, 2024 Jun.
Article En | MEDLINE | ID: mdl-38433292

AIM: The current study determined the neurodevelopmental outcome of extremely preterm infants at 2 years of age. METHODS: All live-born infants 23-27 weeks of gestation born between 2011 and 2020 in Austria were included in a prospective registry. Neurodevelopmental outcome at 2 years of corrected age was assessed using Bayley Scales of Infant Development for both motor and cognitive scores, along with a neurological examination and an assessment of neurosensory function. RESULTS: 2378 out of 2905 (81.9%) live-born infants survived to 2 years of corrected age. Follow-up data were available for 1488 children (62.6%). Overall, 43.0% had no, 35.0% mild and 22.0% moderate-to-severe impairment. The percentage of children with moderate-to-severe neurodevelopmental impairment decreased with increasing gestational age and was 31.4%, 30.5%, 23.3%, 19.0% and 16.5% at 23, 24, 25, 26 and 27 weeks gestational age (p < 0.001). Results did not change over the 10-year period. In multivariate analysis, neonatal complications as well as male sex were significantly associated with an increased risk of neurodevelopmental impairment. CONCLUSION: In this cohort study, a 22.0% rate of moderate-to-severe neurodevelopmental impairment was observed among children born extremely preterm. This national data is important for both counselling parents and guiding the allocation of health resources.


Infant, Extremely Premature , Neurodevelopmental Disorders , Humans , Male , Female , Austria/epidemiology , Infant, Newborn , Child, Preschool , Neurodevelopmental Disorders/epidemiology , Neurodevelopmental Disorders/etiology , Prospective Studies , Child Development , Registries , Developmental Disabilities/epidemiology , Developmental Disabilities/etiology , Gestational Age , Infant
12.
Pediatr Pulmonol ; 59(5): 1380-1387, 2024 May.
Article En | MEDLINE | ID: mdl-38426806

BACKGROUND/OBJECTIVE: Infants who survive prematurity and other critical illnesses and require continued invasive mechanical ventilation (IMV) postdischarge (at home) are at high risk of developmental delays and disabilities. Studies of extremely preterm cohorts (<28-week gestation) demonstrate rates of 25% for intellectual disability (ID) and 7% for autism spectrum disorder (ASD). Rates of ASD and ID in children with IMV are unknown. This study aimed to determine neurodevelopmental disability risk in a cohort of children with postdischarge IMV. DESIGN/METHODS: A consecutive series of children with IMV were assessed 1 month, 6 months, and 1 year after discharge. Cognitive, social, and communicative domains were assessed by a Developmental and Behavioral Pediatrician using (1) clinical adaptive test/clinical linguistic and auditory milestone scale (CAT/CLAMS) of the capute scales; (2) pediatric evaluation of disability inventory computer adaptive test (PEDI-CAT); and (3) modified checklist for autism in toddlers, revised (MCHAT-R). Red flag signs and symptoms of ASD using DSM-V criteria were noted. Longitudinal testing was reviewed. Expert consensus impressions of evolving ASD and/or ID were determined. RESULTS: Eighteen children were followed for 1 year; at 1 year, the median age (range) was 23 (17-42) months. Children were 44% male, 33% non-Hispanic White, 39% non-Hispanic Black, and 28% Hispanic. Fifteen (83%) children were prematurity survivors. Median (range) developmental quotients (DQs): full-scale DQ 59 (11-86), CAT DQ 66.5 (8-96), and CLAMS DQ 49.5 (13-100). Twelve (67%) children were highly suspicious for ASD and/or evolving ID. CONCLUSIONS/SIGNIFICANCE: This cohort of children with at-home IMV demonstrates a higher risk of ASD and ID than prior premature cohorts. Larger investigations with longer follow-up are needed.


Tracheostomy , Humans , Male , Female , Infant , Child, Preschool , Infant, Newborn , Respiration, Artificial/statistics & numerical data , Autism Spectrum Disorder , Ventilators, Mechanical , Intellectual Disability , Neurodevelopmental Disorders/etiology , Neurodevelopmental Disorders/epidemiology , Developmental Disabilities/etiology , Infant, Premature
13.
Seizure ; 117: 213-221, 2024 Apr.
Article En | MEDLINE | ID: mdl-38484631

BACKGROUND: Adequate pre-pregnancy counselling and education planning are essential to improve outcomes for offspring of women with epilepsy (OWWE). The current systematic review and meta-analysis aimed to compare outcomes for OWWE and offspring of women without epilepsy (OWWoE). METHODS: We conducted a systematic review and meta-analysis. We searched MEDLINE, EMBASE, CINAHL, PsycINFO (database inception-1st January 2023), OpenGrey, GoogleScholar, and hand-searched journals and reference lists of included studies to identify eligible studies. We placed no language restrictions and included observational studies concerning OWWE and OWWoE. We followed the PRIMSA checklist for abstracting data. The Newcastle-Ottawa Scale for risk of bias assessment was conducted independently by two authors with mediation by a third. We report pooled unadjusted odds ratios (OR) or mean differences (MD) with 95% confidence intervals (95CI) from random (I2>50%) or fixed (I2<50%) effects meta-analyses. Outcomes of interest included offspring autism, attention deficit/hyperactive disorder, intellectual disability, epilepsy, developmental disorder, intelligence, educational, and adulthood socioeconomic outcomes. RESULTS: Of 10,928 articles identified, we included 21 in meta-analyses. OWWE had increased odds of autism (2 articles, 4,502,098 offspring) OR [95CI] 1·67 [1·54, 1·82], attention-deficit/hyperactivity disorder (3 articles, 957,581 offspring) 1·59 [1·44, 1·76], intellectual disability (2 articles, 4,501,786 children) 2·37 [2·13, 2·65], having special educational needs (3 articles, 1,308,919 children) 2·60 [1·07, 6·34]. OWWE had worse mean scores for full-scale intelligence (5 articles, 989 children) -6·05 [-10·31, -1·79]. No studies were identified that investigated adulthood socioeconomic outcomes. CONCLUSIONS: Increased odds of poor outcomes are higher with greater anti-seizure medication burden including neurodevelopmental and educational outcomes. In fact, these two outcomes seem to be worse in OWWE compared to OWWoE, even if there was no ASM exposure during pregnancy, but further work is needed to take into account potential confounding factors.


Epilepsy , Humans , Epilepsy/epidemiology , Female , Pregnancy , Adult , Pregnancy Complications/epidemiology , Neurodevelopmental Disorders/epidemiology , Neurodevelopmental Disorders/etiology , Educational Status , Socioeconomic Factors , Developmental Disabilities/epidemiology , Developmental Disabilities/etiology
14.
Eur J Paediatr Neurol ; 49: 45-54, 2024 Mar.
Article En | MEDLINE | ID: mdl-38367369

AIM: To conduct a systematic review of post-neonatal neurological outcomes and mortality following neonatal seizures with electroencephalographical verification. METHODS: The databases Medline, Embase and Web of Science were searched for eligible studies. All abstracts were screened in a blinded fashion between research team members and reports found eligible were obtained and screened in full text by two members each. From studies included, outcome results for post-neonatal epilepsy, cerebral palsy, intellectual disability, developmental delay, mortality during and after the neonatal period and composite outcomes were extracted. A quality assessment of each study was performed. RESULTS: In total, 5518 records were screened and 260 read in full text. Subsequently, 31 studies were included, containing cohorts of either mixed or homogenous etiologies. Follow-up time and gestational ages varied between studies. No meta-analysis could be performed due to the low number of studies with comparable outcomes and effect measures. Reported cumulative incidences of outcomes varied greatly between studies. For post-neonatal epilepsy the reported incidence was 5-84%, for cerebral palsy 9-78%, for intellectual disability 24-67%, for developmental delay 10-67% and for mortality 1-62%. Subgroup analysis had more coherent results and in cohorts with status epilepticus a higher incidence of post-neonatal epilepsy from 46 to 84% was shown. CONCLUSION: The large variation of reported incidences for neurological outcomes and mortality found even when restricting to cohorts with electroencephalographically verified neonatal seizures indicates selection bias as a significant confounder in existing studies. Population-based approaches are thus warranted to correctly predict outcomes in this group.


Electroencephalography , Seizures , Humans , Infant, Newborn , Cerebral Palsy/mortality , Cerebral Palsy/complications , Cerebral Palsy/physiopathology , Developmental Disabilities/etiology , Seizures/mortality
15.
Eur J Paediatr Neurol ; 49: 66-72, 2024 Mar.
Article En | MEDLINE | ID: mdl-38394710

OBJECTIVE: To evaluate clinical characteristics and long-term outcomes in patients with guanidinoacetate methyltransferase (GAMT) deficiency with a special emphasis on seizures and electroencephalography (EEG) findings. METHODS: We retrospectively analyzed the clinical and molecular characteristics, seizure types, EEG findings, neuroimaging features, clinical severity scores, and treatment outcomes in six patients diagnosed with GAMT deficiency. RESULTS: Median age at presentation and diagnosis were 11.5 months (8-12 months) and 63 months (18 months -11 years), respectively. Median duration of follow-up was 14 years. Global developmental delay (6/6) and seizures (5/6) were the most common symptoms. Four patients presented with febrile seizures. The age at seizure-onset ranged between 8 months and 4 years. Most common seizure types were generalized tonic seizures (n = 4) and motor seizures resulting in drop attacks (n = 3). Slow background activity (n = 5) and generalized irregular sharp and slow waves (n = 3) were the most common EEG findings. Burst-suppression and electrical status epilepticus during slow-wave sleep (ESES) pattern was present in one patient. Three of six patients had drug-resistant epilepsy. Post-treatment clinical severity scores showed improvement regarding movement disorders and epilepsy. All patients were seizure-free in the follow-up. CONCLUSIONS: Epilepsy is one of the main symptoms in GAMT deficiency with various seizure types and non-specific EEG findings. Early diagnosis and initiation of treatment are crucial for better seizure and cognitive outcomes. This long-term follow up study highlights to include cerebral creatine deficiency syndromes in the differential diagnosis of patients with global developmental delay and epilepsy and describes the course under treatment.


Electroencephalography , Guanidinoacetate N-Methyltransferase/deficiency , Language Development Disorders , Movement Disorders/congenital , Humans , Male , Female , Child, Preschool , Infant , Child , Retrospective Studies , Seizures/diagnosis , Seizures/physiopathology , Seizures/etiology , Seizures/drug therapy , Movement Disorders/diagnosis , Follow-Up Studies , Developmental Disabilities/etiology
16.
JAMA ; 331(1): 28-37, 2024 01 02.
Article En | MEDLINE | ID: mdl-38165408

Importance: Multidomain interventions in pregnancy and early childhood have improved child neurodevelopment, but little is known about the effects of additional preconception interventions. Objective: To evaluate the effect of a multifaceted approach including health; nutrition; water, sanitation, and hygiene (WASH); and psychosocial support interventions delivered during the preconception period and/or during pregnancy and early childhood on child neurodevelopment. Design, Setting, and Participants: In this randomized trial involving low- and middle-income neighborhoods in Delhi, India, 13 500 participants were assigned to preconception interventions or routine care for the primary outcome of preterm births and childhood growth. Participants who became pregnant were randomized to pregnancy and early childhood interventions or routine care. Neurodevelopmental assessments, the trial's secondary outcome reported herein, were conducted in a subsample of children at age 24 months, including 509 with preconception, pregnancy, and early childhood interventions; 473 with preconception interventions alone; 380 with pregnancy and early childhood interventions alone; and 350 with routine care. This study was conducted from November 1, 2000, through February 25, 2022. Interventions: Health, nutrition, psychosocial care and support, and WASH interventions delivered during preconception, pregnancy, and early childhood periods. Main Outcomes and Measures: Cognitive, motor, language, and socioemotional performance at age 24 months, assessed using the Bayley Scales of Infant and Toddler Development 3 tool. Results: The mean age of participants at enrollment was 23.8 years (SD, 3.0 years). Compared with the controls at age 24 months, children in the preconception intervention groups had higher cognitive scores (mean difference [MD], 1.16; 98.3% CI, 0.18-2.13) but had similar language, motor, and socioemotional scores as controls. Those receiving pregnancy and early childhood interventions had higher cognitive (MD, 1.48; 98.3% CI, 0.49-2.46), language (MD, 2.29; 98.3% CI, 1.07-3.50), motor (MD, 1.53; 98.3% CI, 0.65-2.42), and socioemotional scores (MD, 4.15; 98.3% CI, 2.18-6.13) than did controls. The pregnancy and early childhood group also had lower incidence rate ratios (RRs) of moderate to severe delay in cognitive (incidence RR, 0.62; 98.3% CI, 0.40-0.96), language (incidence RR, 0.73; 98.3% CI, 0.57-0.93), and socioemotional (incidence RR, 0.49; 98.3% CI, 0.24-0.97) development than did those in the control group. Children in the preconception, pregnancy, and early childhood intervention group had higher cognitive (MD, 2.60; 98.3% CI, 1.08-4.12), language (MD, 3.46; 98.3% CI, 1.65-5.27), motor (MD, 2.31; 98.3% CI, 0.93-3.69), and socioemotional (MD, 5.55; 98.3% CI, 2.66-8.43) scores than did those in the control group. Conclusions and Relevance: Multidomain interventions during preconception, pregnancy and early childhood led to modest improvements in child neurodevelopment at 24 months. Such interventions for enhancing children's development warrant further evaluation. Trial Registration: Clinical Trials Registry-India CTRI/2017/06/008908.


Child Development , Infant Health , Preconception Care , Women's Health , Adult , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Pregnancy , Young Adult , Hygiene , Income , India , Language , Nutritional Status , Developmental Disabilities/etiology , Developmental Disabilities/prevention & control , Prenatal Care , Socioeconomic Factors , Preconception Care/methods , Maternal Health , Child Health , Water Quality , Water Supply , Sanitation
17.
Sci Rep ; 14(1): 2274, 2024 01 27.
Article En | MEDLINE | ID: mdl-38280915

This study aimed to examine the impact of term LBW on short-term neonatal and long-term neurodevelopmental outcomes in children 5-7 years of age. This is a population-based cohort study that merged national data from the Korea National Health Insurance claims and National Health Screening Program for Infants and Children. The participants were women who gave birth at a gestational age of ≥ 37 weeks between 2013 and 2015 in the Republic of Korea, and were tracked during 2020 for the neurodevelopmental surveillance of their children. Among 830,806 women who gave birth during the study period, 31,700 (3.8%) of their babies weighed less than 2500 g. By Cox proportional hazard analysis, children aged 5-7 years who had LBW were associated with any developmental, motor developmental delay, cognitive developmental delay, autism spectrum, attention deficit hyperactivity disorders, and epileptic and febrile seizures.Children born with term LBW were more vulnerable to neurodevelopmental disorders at 5-7 years of age than those with normal and large birth weights. This study further substantiates counseling parents regarding the long-term outcomes of children being born underweight.


Developmental Disabilities , Infant, Low Birth Weight , Infant, Newborn , Infant , Child , Humans , Female , Child, Preschool , Male , Cohort Studies , Birth Weight , Gestational Age , Developmental Disabilities/epidemiology , Developmental Disabilities/etiology
19.
J Perinatol ; 44(4): 554-560, 2024 Apr.
Article En | MEDLINE | ID: mdl-38195922

OBJECTIVE: Determine association between time to regain birthweight and 2-year neurodevelopment among extremely preterm (EP) newborns. STUDY DESIGN: Secondary analysis of the Preterm Erythropoietin Neuroprotection Trial evaluating time to regain birthweight, time from birth to weight nadir, time from nadir to regain birthweight, and cumulative weight loss with 2-year corrected Bayley Scales of Infant and Toddler Development 3rd edition. RESULTS: Among n = 654 EP neonates, those with shorter nadir-to-regain had lower cognitive scores (≤1 day versus ≥8 days: -5.0 points, [CI -9.5, -0.6]) and lower motor scores (≤1 day versus ≥8 days: -4.6 points [CI -9.2, -0.03]) in adjusted stepwise forward regression modeling. Increasingly cumulative weight loss was associated with lower cognitive scores (≤-50 percent-days: -5.6, [CI -9.4, -1.8]), motor scores (≤-50 percent-days: -4.2, [CI -8.2, -0.2]); and language scores (≤-50 percent-days: -6.0, [CI -10.1, -1.9]). CONCLUSION: Faster nadir-to-regain and excessive cumulative weight loss are associated with adverse 2-year neurodevelopmental outcomes. TRIAL REGISTRATION: PENUT Trial Registration: NCT01378273. https://clinicaltrials.gov/ct2/show/NCT01378273 . CLINICAL TRIAL REGISTRATION: This study is a post-hoc secondary analysis of pre-existing data from the PENUT Trial (NCT #01378273).


Developmental Disabilities , Infant, Extremely Premature , Humans , Infant, Newborn , Birth Weight , Developmental Disabilities/epidemiology , Developmental Disabilities/etiology , Weight Loss , Child, Preschool
20.
Neonatology ; 121(1): 74-80, 2024.
Article En | MEDLINE | ID: mdl-37866355

INTRODUCTION: This study aimed to investigate the outcomes of infants at 18-24 months born in the Korean Neonatal Network with a birth weight <500 g. METHODS: The anthropometric and neurodevelopmental data of infants with a birth weight <500 g at a gestational age of ≥22 weeks who were registered in the Korean Neonatal Network 2013-2017 and followed up at a corrected age of 18-24 months were reviewed. Neurodevelopmental impairment was defined as the presence of any of the following: (1) cerebral palsy; (2) severe visual impairment; (3) hearing impairment; or (4) cognitive impairment. Cognitive impairment was defined as (1) a Bayley Scales of Infant Development-II Mental Development Index score <70; and (2) Bayley Scales of Infant and Toddler Development-III Cognitive and Language Composite scores <85. Cognitive testing was performed for infants with suspected problems upon clinician's referral to developmental specialists. RESULTS: At a median corrected age of 20 months, 26/52 (50%) of included infants had neurodevelopmental impairment. Cerebral palsy, severe visual impairment, wearing of glasses, hearing impairment, and cognitive impairment occurred in 22%, 0%, 8%, 5%, and 57% of the included infants, respectively. The proportions of infants with <2 standard deviations of weight, length, and head circumference were 54%, 52%, and 56%, respectively. The majority (70%) of infants were rehospitalized, and the most common cause was respiratory problems. CONCLUSION: Half of infants with a birth weight <500 g in Korea may exhibit neurodevelopmental impairment and growth retardation at a corrected age of 18-24 months. Multidisciplinary follow-up along with continuous rehabilitation will be needed to improve neurological and physical development in this special population.


Cerebral Palsy , Hearing Loss , Infant, Newborn , Infant , Female , Humans , Child, Preschool , Child , Birth Weight , Cohort Studies , Cerebral Palsy/diagnosis , Cerebral Palsy/epidemiology , Cerebral Palsy/etiology , Hearing Loss/epidemiology , Hearing Loss/complications , Vision Disorders/epidemiology , Republic of Korea/epidemiology , Developmental Disabilities/diagnosis , Developmental Disabilities/epidemiology , Developmental Disabilities/etiology
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