ABSTRACT
Children with attention-deficit hyperactivity disorder (ADHD) have difficulties in social interactions. Studying brain activity during social interactions is difficult with conventional artificial stimuli. This pioneering study examined the neural correlates of social perception in children with ADHD and matched controls using naturalistic stimuli. We presented 20 children with ADHD and 20 age-and-sex-matched controls with tailored movies featuring high- or low-level social interactions while recording electroencephalographic signals. Both groups exhibited synchronized gamma-band oscillations, but controls demonstrated greater inter-subject correlations. Additionally, the difference in inter-subject correlations between high- and low-interaction movies was significantly larger in controls compared to ADHD patients. Between 55 and 75 Hz comparing viewing high interaction movies with low interaction moves, controls had a significantly larger weighting in the right parietal lobe, while ADHD patients had a significantly smaller weighting in the left occipital lobe. These findings reveal distinct spatiotemporal neural signatures in social interaction processing among children with ADHD and controls using naturalistic stimuli. These neural markers offer potential for group differentiation and assessing intervention efficacy, advancing our understanding ADHD-related social interaction mechanisms.
Subject(s)
Attention Deficit Disorder with Hyperactivity , Electroencephalography , Social Interaction , Humans , Attention Deficit Disorder with Hyperactivity/physiopathology , Attention Deficit Disorder with Hyperactivity/psychology , Male , Child , Female , Biomarkers , Gamma Rhythm/physiology , Case-Control Studies , Brain/physiopathology , AdolescentABSTRACT
BACKGROUND: Children can become anxious when undergoing emergency medical treatment. Therefore, emergency departments should be child friendly. This study explored emergency nurses' perspectives on children's needs during emergency care. METHOD: This qualitative study employed purposive sampling to recruit 17 emergency nurses from 3 medical centers in northern and central Taiwan. Individual interviews were conducted between January and August 2021. Data were analyzed through qualitative content analysis. RESULTS: The participants had 2-23 years of experience in caring for children in emergency departments. We identified 208 unique meaning units in the interview data, 79 of which were related to child-friendly emergency care. These were classified into 42 codes across 6 categories and 27 subcategories. The six categories were timely comfort, emotional care, frontline safety, emergency response, human resources support, and treatment efficiency. CONCLUSION: Emergency nurses have professional competencies, play a crucial role as care providers for children in the emergency department, and ensure the comfort and safety of children seeking treatment. The categories related to child-friendly emergency care identified in this study can serve as a basis for developing child-friendly care emergency guidelines.
Subject(s)
Emergency Service, Hospital , Nurses , Humans , Qualitative Research , Hospitals , TaiwanABSTRACT
Zellweger spectrum disorders (ZSD) are rare autosomal recessive disorders caused by defects in peroxisome biogenesis factor (PEX; peroxin) genes leading to impaired transport of peroxisomal proteins with peroxisomal targeting signals (PTS). Four patients, including a pair of homozygotic twins, diagnosed as ZSD by genetic study with different clinical presentations and outcomes as well as various novel mutations are described here. A total of 3 novel mutations, including a nonsense, a frameshift, and a splicing mutation, in PEX1 from ZSD patients were identified and unequivocally confirmed that the p.Ile989Thr mutant PEX1 exhibited temperature-sensitive characteristics and is associated with milder ZSD. The nature of the p.Ile989Thr mutant exhibited different characteristics from that of the other previously identified temperature-sensitive p.Gly843Asp PEX1 mutant. Transcriptome profiles under nonpermissive vs. permissive conditions were explored to facilitate the understanding of p.Ile989Thr mutant PEX1. Further investigation of molecular mechanisms may help to clarify potential genetic causes that could modify the clinical presentation of ZSD.
Subject(s)
Zellweger Syndrome , Humans , Child , Zellweger Syndrome/genetics , Zellweger Syndrome/complications , Zellweger Syndrome/metabolism , Temperature , ATPases Associated with Diverse Cellular Activities/genetics , ATPases Associated with Diverse Cellular Activities/metabolism , Membrane Proteins/genetics , Membrane Proteins/metabolism , Fibroblasts/metabolism , Mutation/geneticsABSTRACT
BACKGROUND: The role home-schooling of children in parental mental health during the COVID-19 pandemic in Taiwan remains unknown. This study aimed to assess the association between parental psychological distress and home-schooling in a socio-ecological context during the peak of the first wave of the COVID-19 pandemic in Taiwan. METHODS: This was a prospective cohort study. In total, 902 parents (father: n = 206, mother: n = 696) who home-schooled children under 18 years of age were recruited by purposive sampling from 17 cities in Taiwan. Data were collected between 19 July and 30 September 2021 through a survey. Multilevel regression models were used to examine the association between parents' psychological distress and home-schooling considering the characteristics at the person and city levels. RESULTS: Parental psychological distress was positively associated with difficulty in setting up electronic devices and increased disputes between parents and children, and it was negatively associated with time management and increased time spent bonding with their children during home-schooling (Ps < 0.05). Parents who had a child with health conditions, lived in an extended family, worked from home, lived during the Level 3 alert level, and lived with a median/sporadic level of the COVID-19 community spread by city also reported greater psychological distress (Ps < 0.05). However, parents who had greater household family support reported less psychological distress (P < .05). CONCLUSIONS: Clinicians and policy makers must carefully consider parental mental health while home-schooling during the COVID-19 pandemic in a broader socio-ecological context. A focus is advised on the home-schooling experiences of parents and other risk and protective factors for parental psychological distress at the person and city levels, especially for those with children who require medical interventions and have a medical condition.
Subject(s)
COVID-19 , Child , Humans , Adolescent , COVID-19/epidemiology , Taiwan/epidemiology , Protective Factors , Pandemics , Prospective Studies , Parents/psychologyABSTRACT
Objective: To investigate the relationship between sleep problems and development in preschool children with suspected developmental delay. Methods: A total of 192 preschool children (mean age 4 years; 131 males, 61 females) were recruited from the Child Development Clinic, including 98 preterm children and 94 age- and sex-matched full-term children. All participants underwent evaluation of gross motor, fine motor and speech performance. All parents of all participants completed the Children's Sleep Habits Questionnaire (CSHQ). Some of the participants also underwent psychological evaluation. Correlation analysis and community network analysis were used to investigate the interactions. Results: The developmental status was: 75.5% developmental delay, 19.3% borderline development, and 5.2% normal development. Eighty-nine percent of the subjects had abnormal CSHQ scores. Age, gestational age, speech development, cognitive development, and socio-emotional development were significantly correlated with the CSHQ. Significant interactions between sleep problems and development were noted mostly in the preterm group. Conclusion: High prevalence of sleep disturbances in children at the Child Development Center was noted and associated with multiple factors. Therefore, during the multidisciplinary evaluation of children with possible developmental delay, inquiring about their sleep quality and habits is strongly recommended. Mitigating sleep problems enhances the efficacy of early intervention programs.
Subject(s)
Brain Diseases , COVID-19 , Child , Humans , SARS-CoV-2 , COVID-19/complications , Brain Diseases/etiology , BrainABSTRACT
BACKGROUND/PURPOSE: Having siblings is a crucial ecological factor in children's language development. Whether siblings play a role in the language development of children with developmental delays remains unknown. This study therefore aimed to assess the association between sibling presence and changes in language trajectories of children with developmental delays before reaching early school age. METHODS: This retrospective cohort-sequential longitudinal study analyzed data from an institution designated by Taiwan's Ministry of Health and Welfare for assessing and identifying young children with developmental delays between December 2008 and February 2016. We included 174 children, aged 10-58 months (mean [standard deviation (SD)], 31.74 [10.15] months), with developmental delays who underwent at least three waves of evaluation. The final evaluation occurred at 37-90 months of age. Data collection spanned over an age from 10 to 90 months. The primary outcome was language delays as determined by board-certified speech-language pathologists. RESULTS: Of the 174 participants (131 boys), 64.94 % (n = 113) had siblings. The likelihood of both receptive language delay and expressive language delay for participants with siblings increased gradually from 10 to 90 months and exceeded that of participants without siblings, respectively (adjusted odds ratios [aOR], 1.04, 1.04; 95 % confidence interval [CI], 1.01-1.07, 1.01-1.07; P = 0.014, 0.020). CONCLUSION: Having siblings does not necessarily positively associate with language development in children with developmental delays. Clinicians should consider the association of sibling presence with language development for these children in a broader familial-ecological context before they reach early school age.
Subject(s)
Language Development Disorders , Siblings , Child , Child, Preschool , Humans , Language Development , Language Development Disorders/epidemiology , Longitudinal Studies , Male , Retrospective StudiesABSTRACT
Dravet syndrome (DS) is an uncommon epilepsy syndrome that may negatively affect the patients and their caregivers. However, reliable and valid measures of its impact on caregivers and the characteristics of patients with DS in Taiwan are lacking. This study aimed to describe the characteristics of patients with DS and concerns of their caregivers and establish a baseline frequency of disease characteristics using a cross-sectional survey in Taiwan. We assessed the caregivers of patients with DS using an online anonymous questionnaire. The seizure frequency decreased with age, although lacking statistical significance. Vaccines show no influence on the condition of patients with DS. Our findings revealed the highest impact on the domains affecting the caregivers' daily life, including additional household tasks, symptom observation, further medical plan, and financial issues. Caregivers also expressed concerns regarding the lack of independence/constant care, seizure control, speech/communication, and impacts on siblings because of long-term care of the patients in parents' absence. Our findings highlight the significant effects of caring for a child with DS on the lives of their caregivers in Taiwan; these findings will help raise awareness regarding the needs of these families. Furthermore, we discussed the possible pathophysiological mechanisms of associated comorbidities.
Subject(s)
Caregivers/psychology , Epilepsies, Myoclonic/pathology , Mutation , NAV1.1 Voltage-Gated Sodium Channel/genetics , Quality of Life/psychology , Vaccination/statistics & numerical data , Adolescent , Adult , Age Factors , Child , Child, Preschool , Comorbidity , Cross-Sectional Studies , Epilepsies, Myoclonic/genetics , Female , Humans , Infant , Male , Surveys and Questionnaires , Taiwan/epidemiology , Young AdultABSTRACT
PURPOSE: To establish an appropriate clinical protocol for early photoscreening in 12-to-24-month-old children at pediatric well-baby clinics. METHODS: This prospective study included a total of 277 children aged 12-24 months who visited a pediatric well-baby clinic. All participants underwent: 1) inquiry of medical history; 2) photoscreening with PlusoptiX A12; and 3) comprehensive ophthalmologic examinations. The optimal referral cut-off point for PlusoptiX was determined by receiver operating characteristic analyses. A high-risk subgroup was defined as having a birth weight <3000 g or a history of major systemic diseases, based on the results of multivariable risk factor analysis from children's medical history. A strategy of selective photoscreening focusing on the high-risk subgroup was evaluated. The main outcome measures included sensitivity, specificity, and positive and negative predictive values. RESULTS: The prevalence of amblyopia risk factors in our study population was 12.3%. A total of 172 children (62.1%) were assigned to the high-risk subgroup. Compared with the nonselective photoscreening of all 277 children, selective photoscreening of the high-risk children yielded a higher positive predictive value (59.6% vs. 46.7%, p = 0.001) while showing no difference in sensitivity (82.3% vs. 85.3%, p = 0.32), specificity (92.2% vs, 86.4%, p = 0.05), and negative predictive value (97.4% vs. 97.6%, p = 0.50). CONCLUSION: At pediatric well-baby clinics, selective photoscreening among 12-to-24-month-old children with a birth weight <3000 g or a history of major systemic diseases helped reducing the number of children need to be screened and conserving medical resources yet identifying children at risk for timely eye care.
Subject(s)
Amblyopia , Vision Screening , Amblyopia/diagnosis , Amblyopia/epidemiology , Child, Preschool , Humans , Infant , Predictive Value of Tests , Prospective Studies , Reproducibility of Results , Risk FactorsABSTRACT
BACKGROUND: KCNQ2-associated epilepsy is most common in neonatal genetic epilepsy. A prompt diagnosis to initialize early treatment is important. METHODS: We studied the electroencephalographic (EEG) changes including automated EEGs and conventional EEGs monitoring of 10 nonconsanguineous cases with KCNQ2 mutations, identified among 162 (6%) childhood epilepsy. We compared 11 (25%) non-KCNQ2 seizures videoed from 44 automated EEG and EEG monitoring. RESULTS: Patients with KCNQ2 seizures had received more antiepileptic treatments than patients in non-KCNQ2 group. Seizures were detected in all patients with KCNQ2 epileptic encephalopathy (EE); the detection rate in KCNQ2 group was more than in patients with non-KCNQ2. The ictal recordings showed 3 newborns presented with initial lower amplitudes (<15 µV) and fast activity (>20 Hz), evolving into higher-amplitude theta-delta waves. Two patient's ictal seizures showed recurrent focal tonic movements of the unilateral limbs associated with slowly continuous spikes in the contralateral hemisphere. The interictal EEGs in 5 KCNQ2 EE were burst-suppression. In 5 patients with familial KCNQ2 mutations, the interictal EEGs showed focal paroxysmal activity. Compared with 11 non-KCNQ2 EEG of ictal seizures, the differences are ictal EEGs initially appeared manifesting theta-delta waves without fast activities. In KCNQ2 seizures, patients with mutations locating in the selectivity filter controlling K+ permeability had severe EEG patterns and poor neurodevelopmental outcomes. CONCLUSION: Ictal EEGs in KCNQ2 seizures are unique and different from the EEGs of seizures with other etiologies. An EEG monitoring can be a valuable tool for early diagnosing KCNQ2-associated seizures and for supporting prompt treatments.
Subject(s)
Electroencephalography , Epilepsy , KCNQ2 Potassium Channel/genetics , Anticonvulsants/therapeutic use , Child , Early Diagnosis , Epilepsy/diagnosis , Epilepsy/drug therapy , Epilepsy/genetics , Humans , Infant, Newborn , Seizures/diagnosis , Seizures/geneticsABSTRACT
BACKGROUND: Epilepsy caused by a KCNQ2 gene mutation usually manifests as neonatal seizures during the first week of life. The genotypes and phenotypes of KCNQ2 mutations are noteworthy. METHODS: The KCNQ2 sequencings done were selected from 131 nonconsanguineous pediatric epileptic patients (age range: 2 days to 18 years) with nonlesional epilepsy. RESULTS: Seven (5%) index patients had verified KCNQ2 mutations: c.387+1 G>T (splicing), c.1741 C>T (p.Arg581*), c.740 C>T p.(Ser247Leu), c.853 C>A p.(Pro285Thr), c.860 C>T p.(Thr287Ile), c.1294 C>T p.(Arg432Cys), and c.1627 G>A p.(Val543Met). We found, after their paternity had been confirmed, that three patients had de novo p.(Ser247Leu), p.(Pro285Thr), and p.(Thr287Ile) mutations and neonatal-onset epileptic encephalopathy; however, their frequent seizures remitted after they turned 6 months old. Those with the c.387+1G>T (splicing), (p.Arg581*), and p.(Val543Met) mutations presented with benign familial neonatal convulsions. In addition to their relatives, 14 patients had documented KCNQ2 mutations, and 12 (86%) had neonatal seizures. The seizures of all five patients treated with oxcarbazepine remitted. CONCLUSION: KCNQ2-related epilepsy led to varied outcomes (from benign to severe) in our patients. KCNQ2 mutations accounted for 13% of patients with seizure onset before 2 months old in our study. KCNQ2 mutations can cause different phenotypes in children. p.(Pro 285Thr) is a novel mutation, and the p.(Pro 285Thr), p.(Ser247Leu), and p.(Thr287Ile) variants can cause neonatal-onset epileptic encephalopathy.
Subject(s)
Epilepsy/genetics , KCNQ2 Potassium Channel/genetics , Mutation, Missense , Phenotype , Adolescent , Brain Waves , Child , Child, Preschool , Epilepsy/pathology , Female , Humans , Infant , MaleABSTRACT
BACKGROUND: Cyclin-dependent kinase-like 5 (CDKL5), which maps to chromosome Xp22.13 and contains 20 coding exons, has been recognized as the gene responsible for early-onset epileptic encephalopathy (EoEE). A retrospective study is carried out to analyze potential genotypic and phenotypic differences between male and female patients with CDKL5 mutations. MATERIALS AND METHODS: Targeted next-generation DNA sequencing was employed to search for mutations in patients with cryptogenic EE. A total of 44 patients with EoEE/infantile spasms (ISs)/West syndrome were enrolled for pathogenic mutation screening. The clinical phenotypes of patients with CDKL5 mutations were analyzed and compared with those of 166 published cases. RESULTS: One novel and three recurrent mutations were found in four enrolled patients (two boys and two girls). One female patient had partial seizures during the early infantile period and epileptic spasms and tonic seizures several weeks thereafter. The other female patient had IS with hypsarrhythmia. The two male patients had IS without typical hypsarrhythmia and were bedridden. Brain MRIs of the male patients revealed brain atrophy and white matter hyperintensity. The female patients exhibited autistic features with hand stereotypies. CONCLUSION: Our study highlights that both girls and boys with IS harbor CDKL5 mutations. Male children with CDKL5 mutations demonstrate a higher frequency of infantile spasms and brain atrophy, whereas female children often exhibit atypical Rett syndrome with EoEE. In addition, male children have a more severe phenotype than female children.
Subject(s)
Mutation , Protein Serine-Threonine Kinases/genetics , Child , Epilepsy/diagnostic imaging , Epilepsy/genetics , Female , Genetic Association Studies , Humans , Male , Muscle Hypotonia/genetics , Phenotype , Rett Syndrome/genetics , Sex FactorsABSTRACT
SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). Thus far, no particularly effective treatment is available for severe epileptic encephalopathy caused by SCN2A mutations in children. We present the case of a boy who developed seizures on the third day of life and received a diagnosis of EIMFS based on his clinical presentations and electroencephalography reports. Antiepileptic drugs, namely oxcarbazepine, phenytoin, valproate, levetiracetam, and clonazepam, as well as adrenocorticotropic hormone therapy failed to reduce the severity of the seizures. Seizure pattern changed to infantile spasm with extensor thrust since 5â¯months of age. A ketogenic diet consisting of a medium-chain triglyceride recipe was introduced at 8â¯months of age and the seizures were resolved in the following 10â¯months. A de novo mutation in SCN2A (c.573Gâ¯>â¯T; p.W191C) was proven through next-generation sequencing.
Subject(s)
Diet, Ketogenic , Drug Resistant Epilepsy/diet therapy , NAV1.2 Voltage-Gated Sodium Channel/genetics , Seizures/diet therapy , Spasms, Infantile/diet therapy , Brain/physiopathology , Drug Resistant Epilepsy/genetics , Drug Resistant Epilepsy/physiopathology , Humans , Infant , Male , Mutation , Seizures/genetics , Seizures/physiopathology , Spasms, Infantile/genetics , Spasms, Infantile/physiopathologyABSTRACT
Epileptic encephalopathies are highly heterogeneous and phenotypical disorders with different underlying genetic defects. Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c.1270G>A; p.V424M) in the SCN2A gene, which encodes the αII-subunit of the voltage-gated Na+ channel (Nav1.2). The identified SCN2A mutation responsible for the development of the disease is confirmed to be de novo for the proband. Our findings broaden the clinical spectrum of SCN2A mutations, which resembles clinical phenotypes of SCN1A mutations by manifesting as fever sensitive seizures, and highlights that SCN2A mutations are an important cause of early-onset epileptic encephalopathies with movement disorders. In addition, the use of levetiracetam to treat SCN2A epileptic encephalopathy, when Na+ channel-blocking anticonvulsants are ineffective, is also recommended.
Subject(s)
NAV1.2 Voltage-Gated Sodium Channel/genetics , NAV1.2 Voltage-Gated Sodium Channel/metabolism , Spasms, Infantile/genetics , Child , Epilepsy/physiopathology , Female , High-Throughput Nucleotide Sequencing , Humans , Intellectual Disability/drug therapy , Mutation , Mutation, Missense/genetics , Phenotype , Rett Syndrome/genetics , Rett Syndrome/metabolism , Seizures/drug therapy , Seizures, Febrile/drug therapy , Spasms, Infantile/metabolismABSTRACT
We analyzed the KCNQ2 wild-type gene and 3 mutations to highlight the important association between the KCNQ2 phenotype and genotype. The clinical phenotypes of 3 mutations (p.E515D, p.V543 M, and p.R213Q) were compared. KCNQ2, wild-type, and mutant KCNQ2 alleles were transfected into HEK293 cells before whole-cell patch-clamp analysis. Neurodevelopmental outcomes were worst in patients with the p.R213Q mutation, better in patients with the p.E515D mutation, and best in patients with the novel p.V543 M mutation. The currents in p.E515D and in p.V543 M were significantly lower than in the wild type in homomeric and heteromeric transfected HEK293 cells ( P < .05). The opening threshold shifted to values that were more positive, and the maximal current induced by strong depolarization was higher in cells with the p.E515D and p.R213Q mutations. We provide evidence that genotype is involved in determining clinical phenotype, including the seizure frequency and outcome.
Subject(s)
Epilepsy/genetics , KCNQ3 Potassium Channel/genetics , Mutation/genetics , Polymorphism, Single Nucleotide/genetics , Child , Family Health , Female , Genotype , HEK293 Cells , Humans , Infant , Male , Membrane Potentials/genetics , Patch-Clamp Techniques , Phenotype , TransfectionABSTRACT
Febrile seizure (FS) is the most common type of convulsion in infants and young children. The occurrence of FS in a subset of children with febrile illness suggested genetic factors may have an important effect on the predisposition of the disease. Using targeted next generation sequencing (NGS), a novel splicing variation (NM_198903.2:c.1249-1G>T) was identified in the γ-aminobutyric acid type A (GABA-A) receptor γ2 subunit (GABRG2) gene of a FS patient. To investigate possible association of FS with single nucleotide polymorphisms (SNPs) in prostaglandin-endoperoxide synthase-2 (prostaglandin G/H synthase-2; PTGS2/cyclooxygenase-2; COX2) gene involving in thermoregulatory pathway, eight SNPs, rs689465, rs689466, rs20417, rs13306038, rs201931599, rs689470, rs4648306 and rs4648308, along with 2 previously reported variations in IL1RN (86-bp VNTR) and IL10 (rs1900872) were genotyped and utilized for case-control association studies on 35 FS and 31 non-FS controls. A single SNP (rs689466) localized at 5'-1192 of the PTGS2 gene exhibited significant association with FS (p=0.045) based on case-control allelic association analyses. A significant decrease in the frequency of the G allele in FS (0.357) was observed compared to that in controls (0.536) with an estimated odds ratio (OR) of 0.48 (95% CI, 0.23-0.99) for the G versus A allele. Using case-control genotypic association analysis, the -1192 A allele is most likely to confer susceptibility to FS by a recessive action model (p=0.045, pointwise empirical p value (EMP1)=0.049). The association of SNPs in PTGS2, in addition to IL6, IL-6 receptor (IL6R) and prostaglandin E receptor 3 (PTGER3) in prior reports, with FS suggests their possible action in concert to modulate phenotypes in FS as well as the involvement of thermoregulatory pathway in pathogenesis of FS.