Brain Dev. [JOURNAL]
Sun
200 papers
Association of relative age with medical consultations for developmental concerns: A nationwide birth cohort study in Japan.
Kuniyoshi Y
Brain Dev · 2026 Jul · PMID 42398270 · Publisher ↗
BACKGROUND: The relative age effect is associated with high rates of attention-deficit/hyperactivity disorder diagnosis in the youngest children in a classroom. However, it remains unclear whether relative age affects th...
BACKGROUND: The relative age effect is associated with high rates of attention-deficit/hyperactivity disorder diagnosis in the youngest children in a classroom. However, it remains unclear whether relative age affects the earlier stage of initiating medical consultations for developmental and behavioral concerns before a diagnosis is confirmed. METHODS: We analyzed the Longitudinal Survey of Newborns in the 21st Century, a nationwide population-based birth cohort in Japan. We compared 23,423 January-born children (born in the relatively younger months of the academic year) with 23,592 July-born children (born in the relatively older months of the academic year). The primary outcome was caregiver-reported medical consultations for developmental and behavioral concerns between ages 7 and 12. The secondary outcome was caregiver-reported "restlessness" at age 9. RESULTS: The prevalence rates of medical consultations were 6.0% and 5.2% for January- and July-born children, respectively. The adjusted risk difference (aRD) was 0.79 percentage points, and the adjusted risk ratio (aRR) was 1.18. This association was observed in both sexes but was statistically significant mainly in boys (aRR, 1.19). Caregivers were more likely to report January-born children as "restless" at age 9 (24.4% vs. 21.4%, aRR, 1.14). CONCLUSIONS: In this Japanese cohort, being born in the relatively younger months of the academic year was significantly associated with a higher frequency of medical consultations for developmental concerns. The findings suggest that relative age may serve as a contextual factor in the process of seeking medical advice, although whether this reflects true differences in clinical need or misattribution of normal immaturity remains to be elucidated. Clinicians should consider relative age when evaluating children for developmental concerns.
Extending the combined N-back/Nogo paradigm: Toward subtype-sensitive and translationally meaningful ERP research in ADHD.
Putra AH, Ardi Z, Afdal … +2 more , Ifdil, Afiati E
Brain Dev · 2026 Jul · PMID 42398269 · Publisher ↗
Abstract loading — click title to view on PubMed.
Receptor-specific dopaminergic imbalance and sensory gating in Lesch-Nyhan syndrome.
Nagamine T
Brain Dev · 2026 Jul · PMID 42385396 · Publisher ↗
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From weather stations to the home environment: Refining seizure prediction in pediatric drug-resistant epilepsy.
Yücel G
Brain Dev · 2026 Jun · PMID 42349110 · Publisher ↗
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Pediatric GBS-myelitis overlap syndrome: Severe phenotype, treatment response, and neurological outcomes.
Ye F, Zhang Y, Li Y … +4 more , Kang J, Chen J, Fu S, Fang Q
Brain Dev · 2026 Jun · PMID 42341581 · Publisher ↗
PURPOSE: To characterize the clinical features, treatment responses, and outcomes of pediatric patients with Guillain-Barré syndrome (GBS) and concurrent myelitis. METHODS: Clinical and auxiliary data from 22 pediatric p...
PURPOSE: To characterize the clinical features, treatment responses, and outcomes of pediatric patients with Guillain-Barré syndrome (GBS) and concurrent myelitis. METHODS: Clinical and auxiliary data from 22 pediatric patients (5 from local hospital and 17 by reviewing the previous literatures) with GBS and myelitis were analyzed. Parameters included demographics, neuroimaging, cerebrospinal fluid (CSF) findings, immunotherapy regimens, and outcomes stratified by the Hughes Functional Grading Scale. RESULTS: In this pediatric cohort (median age: 11.0 years; male-to-female ratio ≈1:1), GBS with concurrent myelitis manifested with flaccid paralysis in 95.5% of cases, including quadriplegia (59.1%), accompanied by diminished deep tendon reflexes (90.9%). Sensory disturbances were documented in 77.3% of patients, while autonomic dysfunction featured urinary impairment (68.2%) and respiratory failure requiring ventilation (52.6%). Neurodiagnostic findings universally demonstrated long-segment spinal cord lesions (>5 vertebral segments) on MRI and albuminocytological dissociation in CSF analysis. First-line immunotherapy comprised intravenous immunoglobulin (IVIG) and corticosteroids. Severity stratification identified a severe group (Hughes Grade ≥ 3; n = 13) characterized by: tetraplegia (92.3%), respiratory failure (69.2%), extensive spinal cord edema (84.6%), prolonged hospitalization (median: 6.0 weeks), higher residual sequelae (69.2%). The majority of patients in this group (92.3%) necessitated combination therapy with IVIG and corticosteroids. CONCLUSIONS: Pediatric GBS with myelitis frequently presents with severe neurological involvement. Although combination immunotherapy demonstrates efficacy, the severe subgroup shows significant residual morbidity. Early aggressive intervention is warranted to mitigate long-term disability.
Aspartoacylase (ASPA) gene mutations and neuroimaging features in Iranian patients with Canavan disease: a descriptive study.
Rahimian E, Tahsini MR, Karimzadeh P … +6 more , Khalilian S, Fathi M, Miryounesi M, Farahvash MA, Saket S, Fard SG
Brain Dev · 2026 Jun · PMID 42330600 · Publisher ↗
OBJECTIVE: In this retrospective descriptive study, we aimed to evaluate magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) findings alongside different ASPA gene mutations in patients to enhance...
OBJECTIVE: In this retrospective descriptive study, we aimed to evaluate magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) findings alongside different ASPA gene mutations in patients to enhance understanding of the genetic backgrounds and to explore correlations between MRI findings and genetic mutations. METHODS: Whole exome sequencing (WES) was used for molecular analysis in seven Iranian patients with clinical diagnosis of Canavan disease. MRI and MRS findings were assessed in these patients. Clinical data, biochemical findings, detailed anatomical MRI involvement, and metabolites in MRS were evaluated. The full spectrum of brain abnormalities on conventional MRI and MRS, as well as clinical outcomes were compared with molecular data to provide insights into the neuroimaging and molecular findings in these patients. RESULTS: WES identified pathogenic or likely pathogenic variants in the ASPA gene in the majority of cases. MRI revealed involvement of deep and subcortical white matter, along with the globus pallidus in all cases. Yet, the putamen, caudate, and claustrum were not involved. MRS analysis demonstrated a typical N-acetylaspartate (NAA) peak with increased NAA/Creatine and NAA/Choline ratios. CONCLUSION: Taken together, this study enhances our understanding of the genetic background of Canavan disease among the Iranian population. We propose functional assays or cohort studies for unresolved classifications.
Third nationwide survey of bilirubin encephalopathy in preterm infants in Japan.
Okumura A, Arai H, Sato Y … +6 more , Maruo Y, Kusaka T, Kunikata T, Shoji H, Iwatani S, Morioka I
Brain Dev · 2026 Jun · PMID 42322733 · Publisher ↗
OBJECTIVES: To determine the clinical features and trends of occurrence of bilirubin encephalopathy in preterm infants (pBE) in Japan. METHODS: We conducted a third retrospective nationwide questionnaire-based survey (20...
OBJECTIVES: To determine the clinical features and trends of occurrence of bilirubin encephalopathy in preterm infants (pBE) in Japan. METHODS: We conducted a third retrospective nationwide questionnaire-based survey (2024) on pBE in Japan. We performed a two-step questionnaire survey similar to the previous two nationwide surveys. The initial survey determined the number of children born after 2000 who were newly diagnosed with pBE after the 2021 survey. Using a structured questionnaire, the secondary survey clarified the clinical manifestations and characteristics of children with pBE, including demographic data, neurological symptoms, and magnetic resonance imaging (MRI) and auditory brainstem response (ABR) findings. Results were then compared between the three surveys (2017, 2021, and 2024). RESULTS: An initial survey identified 11 patients with pBE from six institutions. After excluding one patient included in previous studies, clinical information was collected from 10 patients (six boys and four girls) during the secondary survey. The median gestational age was 27 weeks and the median birth weight was 1028 g. Head control and functional gait were observed in 50% and 20% of the patients, respectively. Purposeful hand use and verbal communication were observed in 30% and 40% of patients, respectively. MRI showed T2 hyperintensities in the globus pallidus in nine of nine patients. ABR abnormalities were present in four of four patients. None of the variables differed significantly between the 2017, 2021, and 2024 surveys. CONCLUSIONS: The clinical characteristics of pBE were consistent across the three surveys. Infants with pBE had severely impaired gross motor function but relatively preserved manual function and verbal communication. MRI and ABR findings can aid in the diagnosis of pBE.
Urine protein/osmolality and creatinine/osmolality ratios for assessing proteinuria and motor function in children with spinal muscular atrophy.
Şenol HB, Yıldız G, Çağlar E … +8 more , Kömür M, Doğan G, Uzan GS, Polat Aİ, Aydın A, Hız AS, Soylu A, Yiş U
Brain Dev · 2026 Jun · PMID 42322732 · Publisher ↗
BACKGROUND: Spinal muscular atrophy (SMA) is characterized by the degeneration of anterior horn motor neurons. While nusinersen has altered the natural course of SMA, it may accumulate in the kidneys, leading to proteinu...
BACKGROUND: Spinal muscular atrophy (SMA) is characterized by the degeneration of anterior horn motor neurons. While nusinersen has altered the natural course of SMA, it may accumulate in the kidneys, leading to proteinuria. Therefore, routine pre-dose urine monitoring for proteinuria is recommended. To address this issue, we aimed to evaluate the urinary protein-to-osmolality ratio (U). We also aimed to evaluate the relation of urinary creatinine-to-osmolality ratio (U) to motor function scores. METHODS: A retrospective study was performed on 42 SMA patients. U, U, and U ratios were calculated. U and U were compared for the presence of proteinuria, while correlation analysis between U and motor scores was performed using CHOP INTEND in patients aged 0-2 years and HFMSE separately in the 2-6 years, 6-12 years, and > 12 years age groups. Furthermore, laboratory parameters were compared between ambulatory and non-ambulatory patients. RESULTS: The cohort included 17 patients with SMA type 1, 18 with type 2, and 7 with type 3. Proteinuria was detected in 35 (83%) patients using U, whereas only 4 (10%) or 9 (21%) patients had proteinuria with respect to different U cut-offs defined in the literature. U was significantly higher in ambulatory patients. On the other hand, U was correlated with HFMSE scores in the older age groups (6-12 years and > 12 years) (r = 0.553, p = 0.033; r = 0.717, p = 0.02). CONCLUSIONS: The U test may be a reliable alternative for assessing proteinuria in patients with SMA. U may also be associated with motor function in patients with later-stage SMA.
Periodic limb movements during sleep in Lesch-Nyhan syndrome.
Saito Y, Sumitomo N, Saito T … +5 more , Kimura A, Fukumizu M, Asato S, Kodama K, Matsui K
Brain Dev · 2026 Jun · PMID 42284792 · Publisher ↗
AIM: To characterize the periodic limb movements during sleep (PLMS) in children with Lesch-Nyhan syndrome (LNS). METHODS: Three subjects with LNS aged 2 to 7 years were enrolled. PLMS was diagnosed clinically in one pat...
AIM: To characterize the periodic limb movements during sleep (PLMS) in children with Lesch-Nyhan syndrome (LNS). METHODS: Three subjects with LNS aged 2 to 7 years were enrolled. PLMS was diagnosed clinically in one patient, and based on polysomnography (PSG) in two. RESULTS: Repetitive, clustered movements during sleep, involving upper and lower extremities, were first observed in each child between 1 and 5 years of age, preceding the onset of self-injurious behaviors (SIB) characteristic of LNS. The movement patterns consisted of either flexion, or a combination of flexion and extension, of all four limbs. Duration of muscle contraction ranged from 0.5 to 5 s, with inter-movement intervals generally of 5 to 20 s. PSG qualified these movements as PLMS, by demonstration of four or more movements in clusters, occurring predominantly during N1 sleep stage. The PLMS index was 6.9 and 8.8 events per sleep hour for each patient. INTERPRETATION: PLMS may represent impaired spinal sensory gating in LNS, potentially resulting from reduced dopaminergic activity and/or dopamine receptor hypersensitivity. We propose that SIB in LNS constitutes a maladaptive motor response to aberrant sensory processing or dysesthesia, arising from dopaminergic imbalance across cortico-striatal, trigeminal, and spinal gating systems.
Association between timely initial supportive management and short-term outcomes in pediatric febrile seizures: A retrospective inpatient cohort study.
Lai X, Qiao X, Wang X … +1 more , Hong X
Brain Dev · 2026 Jun · PMID 42251828 · Publisher ↗
OBJECTIVE: To investigate the relationship between the timeliness of initial supportive management and short-term clinical outcomes in children with febrile seizures (FSs). METHODS: This single-center retrospective cohor...
OBJECTIVE: To investigate the relationship between the timeliness of initial supportive management and short-term clinical outcomes in children with febrile seizures (FSs). METHODS: This single-center retrospective cohort study included 260 children hospitalized for FSs (January 2022-February 2025). Initial response time was defined as the interval from seizure recognition to the first medical/nursing intervention. The primary outcome was seizure recurrence. Secondary outcomes included adverse clinical events and acute treatment-related indicators. Logistic regression was used to evaluate the association between initial response time (as a continuous variable) and outcomes. RESULTS: The two groups were comparable at baseline except for longer seizure duration in the delayed intervention group (P < 0.001). The delayed intervention group had longer initial response time and later physical cooling (both P < 0.001), and higher rates of adverse events, seizure recurrence, and acute anti-seizure medication use (all P < 0.05). Multivariable analysis showed that prolonged initial response time, complex FS, and longer seizure duration were independently associated with seizure recurrence. CONCLUSION: Timeliness of initial supportive management is associated with short-term clinical outcomes in children with FSs. Prolonged initial response time, complex FS, and longer seizure duration are associated with seizure recurrence. These findings suggest that rapid and standardized initial supportive management during the acute phase of FSs should be emphasized in clinical practice.
Cognitive impairment patterns and associated clinical and imaging characteristics in young patients with Sturge-Weber syndrome.
Keramane HZ, Behen ME, Luat AF … +1 more , Juhász C
Brain Dev · 2026 Jun · PMID 42247728 · Full text
BACKGROUND: Most patients with Sturge-Weber syndrome (SWS) have unilateral brain involvement associated with a wide range of neurocognitive outcomes. AIMS: To evaluate cognitive deficit patterns in young patients with un...
BACKGROUND: Most patients with Sturge-Weber syndrome (SWS) have unilateral brain involvement associated with a wide range of neurocognitive outcomes. AIMS: To evaluate cognitive deficit patterns in young patients with unilateral SWS and identify clinical and imaging variables associated with the various cognitive deficit patterns. METHODS: Forty-six young patients with SWS were stratified by the side of brain involvement and assigned to four cognitive groups, based on formal neuropsychology evaluation: 1-no deficit, 2-traditional deficit (verbal deficit in left, non-verbal in right SWS), 3-reorganized with crowding (e.g., only non-verbal deficit in left-hemispheric cases), and 4-global (verbal and non-verbal) deficit. Age, seizure variables, motor functions, and the extent of brain magnetic resonance imaging abnormalities were compared among the cognitive groups. RESULTS: The reorganized/crowding pattern was seen only in patients with left SWS (6/20, 30%), most of whom were young with extensive abnormalities. Traditional cognitive deficit was seen mostly in right SWS (7/26, 27%). Global deficit was equally common (35%) in left- and right SWS and was associated with extensive hemispheric abnormalities, early seizure onset, and severe motor deficits. In multivariate analysis, extensive calcifications and severe motor deficits were independently associated with global cognitive deficit. CONCLUSIONS: Early, extensive left hemispheric abnormalities can be associated with preserved verbal but impaired non-verbal functions consistent with right-hemispheric reorganization and crowding. However, more than one-third of both left and right-hemispheric patients may develop a global cognitive impairment. This severe cognitive outcome is associated with extensive hemispheric calcification and severe motor deficit.
Correlation between febrile seizures and cytokines in children: a retrospective study.
Yu D, Hu JN, Chen YF … +4 more , Bian XY, Jiang B, Zhang NE, Shao XL
Brain Dev · 2026 Jun · PMID 42247727 · Publisher ↗
OBJECTIVES: To analyze the correlation between cytokine levels and the occurrence of febrile seizures (FS) following respiratory tract infections in children. METHODS: A total of 209 children with febrile seizures (FS) s...
OBJECTIVES: To analyze the correlation between cytokine levels and the occurrence of febrile seizures (FS) following respiratory tract infections in children. METHODS: A total of 209 children with febrile seizures (FS) secondary to respiratory tract infections, treated at the Department of Pediatric Internal Medicine, Shaoxing People's Hospital, between January 2023 and March 2024, were enrolled as the FS group. During the same period, 108 children with respiratory tract infections but without FS were selected as the control group. The association between FS and the immune response was analyzed by comparing cytokine levels between the two groups. RESULTS: Interleukin-2 (IL-2) and IL-6 levels were higher in the FS group than in the control group (children with respiratory tract infections but without FS) (P < 0.05). Younger age was associated with higher levels of IL-10 and IFN-γ (P < 0.05). IL-2 levels were highest during the early stage of seizures (P < 0.05). A greater number of seizure episodes was associated with lower levels of IFN-γ (P < 0.05). IL-6 levels were lower in children with FS who had a history of seizures than in those without such a history (P < 0.05). A serum IFN-γ level exceeding 21.60 pg/mL may serve as a reference index for identifying children at high risk of seizure recurrence. CONCLUSION: IL-2 and IL-6 levels are elevated in children with FS. Furthermore, age, seizure frequency, and a history of prior seizures may influence cytokine levels in these patients.
Ketogenic diet in children with epilepsy: A bibliometric and science mapping analysis of global research.
Kilic KM, Aydin H
Brain Dev · 2026 Jun · PMID 42235190 · Publisher ↗
OBJECTIVE: The ketogenic diet has become an important therapeutic option for children with drug-resistant epilepsy; however, the structure and evolution of the related literature remain insufficiently clarified. This stu...
OBJECTIVE: The ketogenic diet has become an important therapeutic option for children with drug-resistant epilepsy; however, the structure and evolution of the related literature remain insufficiently clarified. This study aimed to map the global research landscape on ketogenic dietary interventions in pediatric epilepsy using bibliometric and science mapping methods. METHODS: Publications indexed in the Web of Science database were retrieved in January 2026. After screening and data cleaning, 983 articles published between 1989 and 2026 were included. Bibliometric analyses were performed using the Bibliometrix R package and Biblioshiny interface to assess publication trends, key contributors, collaboration networks, citation patterns, and thematic development. RESULTS: Scientific output on ketogenic diet interventions in pediatric epilepsy has increased steadily over the past three decades, with a marked acceleration after 2014. A small group of core journals-most prominently Epilepsia, Seizure, and Epilepsy & Behavior-accounts for a large share of publications. The United States, China, and Italy are the leading contributing countries. Keyword and thematic analyses indicate a shift from early mechanistic and pharmacoresistance-focused studies toward broader clinical themes, including efficacy, safety, tolerability, growth outcomes, and alternative dietary approaches such as the modified Atkins diet. CONCLUSION: The field of ketogenic diet research in childhood epilepsy has evolved into a clinically focused and increasingly multidisciplinary area. While seizure control remains central, emerging themes emphasize individualized treatment, long-term safety, and evidence-based standardization. This study clarifies research dynamics, intellectual frameworks, and knowledge gaps, providing a framework to guide future research and support clinical decision-making.
Clinical and neurodevelopmental features of chromosome 1 copy number variations in children.
Yüksel Ülker A, Usluer E, Kaplan İ
Brain Dev · 2026 May · PMID 42217266 · Publisher ↗
BACKGROUND: Copy number variations (CNVs) constitute a significant component of genomic variation and are implicated in the etiopathogenesis of neurodevelopmental and congenital disorders. Chromosome 1, the largest chrom...
BACKGROUND: Copy number variations (CNVs) constitute a significant component of genomic variation and are implicated in the etiopathogenesis of neurodevelopmental and congenital disorders. Chromosome 1, the largest chromosome in the human genome, contains numerous dosage-sensitive regions, and CNVs affecting this chromosome are associated with a broad clinical spectrum. This study aimed to contribute to the delineation of the chromosome 1 disease map through a comprehensive analysis of individuals with chromosome 1 CNVs. METHODS: Among 1480 individuals who underwent chromosomal microarray analysis, twenty individuals with pathogenic or likely pathogenic CNVs involving chromosome 1 were retrospectively evaluated, including 19 postnatal patients and one prenatally diagnosed fetus. RESULTS: CNVs were located on the short arm (1p) in ten patients and on the long arm (1q) in ten. Deletions predominated (18/20), whereas duplications were detected in two patients. The most frequently affected regions were 1q21, 1p36, and 1p31. Neurodevelopmental delay, language impairment, and intellectual disability were the most common clinical features, accompanied by behavioral problems, microcephaly, or epilepsy. Segregation analysis revealed that 13 CNVs were de novo, while 4 were inherited from clinically asymptomatic parents, indicating variable expressivity and reduced penetrance. One patient exhibited a mosaic 1p21.1-p11.2 duplication. Additionally, a homozygous deletion involving HMGCS2, consistent with mitochondrial HMG-CoA synthase deficiency, was detected in a consanguineous family. CONCLUSION: This study highlights the clinical and molecular heterogeneity of chromosome 1 CNVs and underscores the diagnostic value of chromosomal microarray analysis in children with unexplained neurodevelopmental disorders. Our findings further expand the genotype-phenotype spectrum and emphasize the importance of considering inheritance patterns and mosaicism in the interpretation of CNVs.
Gender-related differences in characteristics and treatment response between attention-deficit/hyperactivity disorder Japanese children with and without autism spectrum disorder: a single-center retrospective study.
Kawasaki Y, Suzuki Y, Miyazaki K … +6 more , Suzuki N, Hoshina M, Ise Y, Suzuki Y, Morita H, Go H
Brain Dev · 2026 May · PMID 42214913 · Publisher ↗
AIM: Patients with attention-deficit/hyperactivity disorder (ADHD) as well as those with comorbid autism spectrum disorder (ASD), often experience intellectual developmental challenges, social immaturity and social diffi...
AIM: Patients with attention-deficit/hyperactivity disorder (ADHD) as well as those with comorbid autism spectrum disorder (ASD), often experience intellectual developmental challenges, social immaturity and social difficulties. However, there have been few detailed reports on the gender differences in these factors among Japanese children. To compare gender-based differences in characteristics and treatment responsiveness between ADHD children without ASD and those with ASD, we undertook a clinical survey of ADHD children. METHODS: Patients were divided into two groups based on the presence of ASD and by gender; ASD-based groups were further subdivided by gender, and the gender-based groups were further subdivided by ASD status. We compared patient background, including body mass index (BMI), ADHD characteristics, intelligence quotient (IQ), and treatment response between these groups. RESULTS: Age at first examination and social intelligence quotient (SQ) were significantly lower in the male patients than in the female patients. ADHD Rating Scale (ADHD-RS) scores for hyperactivity disorder and total before treatment and ADHD-RS scores for hyperactivity disorder at the most recent follow-up in the male patients were higher than those in the female patients. In male patients, the initial IQ and SQ of the ASD-comorbidity group were lower than those of the ADHD-only group, but there were no significant differences in each ADHD-RS score, or BMI-standard deviation score. CONCLUSION: These results suggest that male with ADHD tend to have stronger hyperactivity and impulsivity, with such hyperactivity and impulsivity persisting despite treatment and requiring adequate long-term management.
Effect of daily swallowing frequency on swallowing-related muscle mass in individuals with severe motor and intellectual disability.
Uota C, Nohara K, Tanaka N … +4 more , Fujii N, Obana A, Tanaka K, Sakai T
Brain Dev · 2026 May · PMID 42214912 · Publisher ↗
BACKGROUND: Among the causes of dysphagia in individuals with severe motor and intellectual disability (SMID), addressing disuse atrophy of swallowing-related muscles are expected to improve patient outcomes. Disuse atro...
BACKGROUND: Among the causes of dysphagia in individuals with severe motor and intellectual disability (SMID), addressing disuse atrophy of swallowing-related muscles are expected to improve patient outcomes. Disuse atrophy is associated with a reduced frequency of muscle activity, and swallowing frequency may be associated with the atrophy of swallowing-related muscles. OBJECTIVE: We aimed to investigate the relationship between swallowing frequency and swallowing-related muscle mass in individuals with SMID. METHODS: This cross-sectional study included 62 individuals with SMID (31 men and 31 women; mean age: 46.9 [standard deviation, 13.2] years) admitted to our center. Swallowing frequency was measured using a laryngeal microphone, and swallowing-related muscle mass was estimated by measuring the cross-sectional area of the geniohyoid muscle (GHM) using an ultrasonic diagnostic device. RESULTS: Increased swallowing frequency and body weight corresponded to a larger cross-sectional area of the GHM. Moreover, women had a smaller GHM cross-sectional area than men. Multiple regression analysis showed that the swallowing frequency, body weight, and sex were significantly and independently associated with the GHM cross-sectional area (p < 0.01). CONCLUSIONS: Swallowing frequency and body weight significantly affect swallowing-related muscle mass in individuals with SMID.
Incidence of brushes on electroencephalogram at 36 weeks of postmenstrual age in extremely and late preterm infants.
Maeda T, Shiraki A, Takami N … +9 more , Fujito S, Ueda K, Taniguchi A, Tanaka R, Miura R, Suzuki T, Muramatsu Y, Kidokoro H, Sato Y
Brain Dev · 2026 May · PMID 42208398 · Publisher ↗
OBJECTIVE: To compare the incidence and topographical distribution of brushes at 36 weeks postmenstrual age (PMA) between extremely preterm (EPI) and late preterm infants (LPI), and to clarify differences in cortical mat...
OBJECTIVE: To compare the incidence and topographical distribution of brushes at 36 weeks postmenstrual age (PMA) between extremely preterm (EPI) and late preterm infants (LPI), and to clarify differences in cortical maturation. METHODS: This retrospective observational study included 23 EPI (22-27 weeks' gestation) and 51 LPI (33-35 weeks' gestation) who underwent electroencephalography (EEG) between 35 and 36 weeks PMA. LPI were further subdivided into appropriate for gestational age (AGA, n = 42) and small for gestational age (SGA, n = 9). Brushes were visually identified in artifact-free segments of active sleep (AS) and quiet sleep (QS). Incidence was quantified as brushes per minute, and regional distributions were analyzed across frontal, central, temporal, and occipital leads. RESULTS: The incidence of brushes was significantly higher in EPI than in LPI during both AS (median 10.0 vs 4.6/min, p < 0.001) and QS (7.8 vs 4.9/min, p = 0.004). Subgroup analysis revealed higher incidences in LPI-SGA than in LPI-AGA, and comparable levels between EPI and LPI-SGA. Topographically, EPI and LPI-SGA exhibited higher incidence in central and temporal regions compared with LPI-AGA. Inter-rater reliability for brush quantification was strong in AS and moderate in QS. CONCLUSIONS: Higher incidence of brushes at 36 weeks PMA was more common in EPI and LPI-SGA, suggesting delayed cortical maturation in these vulnerable populations. The findings support the potential of brush persistence as an early EEG marker of cortical vulnerability.
Innovations in assistive technology in pediatric Duchenne muscular dystrophy: A scoping review.
Mehra P, Sharma S
Brain Dev · 2026 May · PMID 42190626 · Publisher ↗
SIGNIFICANCE: Duchenne muscular dystrophy (DMD) is a progressively debilitating genetic condition linked to the X chromosome, characterized by gradual muscle weakening, leading to loss of mobility and reduced autonomy in...
SIGNIFICANCE: Duchenne muscular dystrophy (DMD) is a progressively debilitating genetic condition linked to the X chromosome, characterized by gradual muscle weakening, leading to loss of mobility and reduced autonomy in affected youngsters. Improved medical care has led to higher survival rates, resulting in a greater demand for assistive technologies that aid mobility, upper limb function, and daily activities to improve long-term quality of life. AIM: To systematically document recent advancements in assistive technologies and identify current research trends and gaps in the literature that are relevant for children with DMD. APPROACH: PubMed, PEDro and Scopus databases were searched from inception to November 2025 from studies published in recent years focusing on assistive technologies for children with DMD. The PRISMA ScR protocol was followed and Quality was assessed using Sackett level of evidence. Data were synthesized narratively to describe device characteristics, targeted functional domains, reported outcomes, and study limitations. RESULTS: Out of 1029 records, 20 eligible studies were identified, with 8 using exoskeleton or robotic devices, 4 employing gait exoskeleton, 2 utilizing virtual reality, 5 incorporating wearable sensor systems or digital biomarkers, and 1 utilizing an orthotic device. However, most studies were limited by small sample sizes, short follow-up durations, prototype-based designs, and a lack of standardized outcome measures. CONCLUSION: Quality of life and functional abilities of DMD children may be enhanced by advancements in assistive technology. Clinical efficacy, feasibility, and integration into standard pediatric rehabilitation therapy require well-designed clinical trials with long-term follow-up and user-centered design techniques.
Clinical and laboratory factors associated with recurrent and complex febrile seizures: a retrospective visit-based study.
Mungklang N, Saritshasombat P, Uthaima S
Brain Dev · 2026 Jun · PMID 42172817 · Publisher ↗
BACKGROUND: While patient-level risk factors for febrile seizures (FS) are well-established, visit-based clinical characteristics remain less extensively characterized. This study aimed to identify visit-based demographi...
BACKGROUND: While patient-level risk factors for febrile seizures (FS) are well-established, visit-based clinical characteristics remain less extensively characterized. This study aimed to identify visit-based demographic, clinical, and laboratory factors associated with FS recurrence and complexity in a pediatric cohort in Northeastern Thailand. METHODS: We retrospectively analyzed 117 FS-related visits (89 children, aged 6 months-5 years) from 2020 to 2024. Profiles were compared between first vs. recurrent episodes and simple (SFS) vs. complex FS (CFS). Multivariable generalized estimating equations (GEE) identified associated factors, accounting for intra-patient correlation. RESULTS: Of 117 FS visits, 55.6% were first episodes and 44.4% were recurrent. Multivariable GEE revealed younger age (odds ratio [OR] 0.966; 95% confident interval [CI] 0.933-0.999; p = 0.049), positive family history of FS (OR 3.384; 95% CI 1.355-8.437; p = 0.009), and lower hemoglobin (Hb) (OR 0.550; 95% CI 0.311-0.973; p = 0.040) were associated with recurrence. Among 114 visits categorized by subtypes (82.5% SFS; 17.5% CFS), weight-for-age below the 3rd percentile was associated with increased odds of CFS (OR 15.004; 95% CI 1.987-113.210; p = 0.009), whereas concurrent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection showed an inverse association (OR 0.167; 95% CI 0.042-0.663; p = 0.011). CONCLUSIONS: This visit-based study highlights the clinical heterogeneity of FS. Specific factors, including age, family history, Hb levels, growth status, and SARS-CoV-2 infection, were associated with recurrence and complexity. These findings support an informed approach to FS evaluation, helping optimize acute care while avoiding unnecessary investigations in typical cases.
Clinical predictors of intubation and prolonged ventilation in pediatric Guillain-Barré syndrome requiring intensive care: A retrospective observational study.
Surve RM, Sharma P, Chakrabarti D … +4 more , Nisal R, Raghavendra K, Kulkarni GB, Kamath S
Brain Dev · 2026 Jun · PMID 42166828 · Publisher ↗
INTRODUCTION: Pediatric Guillain-Barré syndrome (GBS) may progress to respiratory failure requiring mechanical ventilation (MV), yet predictors of intubation, prolonged MV (PMV), and tracheostomy remain poorly defined. W...
INTRODUCTION: Pediatric Guillain-Barré syndrome (GBS) may progress to respiratory failure requiring mechanical ventilation (MV), yet predictors of intubation, prolonged MV (PMV), and tracheostomy remain poorly defined. We aimed to identify factors associated with intubation and PMV and evaluate the impact of early versus late tracheostomy (>14 days) on outcomes. METHODS: We retrospectively reviewed 75 children with GBS admitted to a Neuro-ICU (2008-2018). Demographic, clinical, electrophysiological, and cerebrospinal fluid data were collected. Outcomes included intubation, PMV (>21 days), tracheostomy, ICU and hospital length of stay, and disability scores. Predictors were analyzed using Firth's penalized logistic regression. Model performance was assessed using receiver operating characteristic (ROC) curves. RESULTS: Of 75 children, 62 required intubation; 37 required PMV, and 31 underwent tracheostomy. On multivariable analysis, lower Medical Research Council (MRC) score at ICU admission independently predicted intubation (OR 0.91; p = 0.009) and PMV (OR 0.90; p = 0.036). Admission MRC score demonstrated fair discrimination for PMV (AUC 0.759), with a cutoff ≤11 yielding 62% sensitivity and 83% specificity. A model combining MRC at ICU Admission, female gender, GBS subtypes and absence of extraocular involvement demonstrated the best discriminative ability (AUC 0.891). PMV was associated with longer ICU and hospital stay (p < 0.001) and higher disability at discharge and follow-up. Outcomes did not differ between early and late tracheostomy. CONCLUSION: Lower MRC score at ICU admission is a robust predictor of intubation and PMV in pediatric GBS. The association between absence of extraocular involvement and PMV should be considered with caution, as it was observed in a limited number of patients. Tracheostomy timing did not significantly influence outcomes.
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