Pediatric Investigation最新文献

Importance: Nutrition is associated with neurodevelopment. Infants at high risk of cerebral palsy (CP) usually suffer from undernutrition, yet the relationship between nutritional status and neurodevelopmental levels is unclear.

Objective: To describe the nutritional status characteristics of infants at high risk of CP, and to explore the relationship between neurodevelopmental levels and nutritional status.

Methods: This single-center cross-sectional study enrolled infants at high risk of CP, with corrected age from 0 days to 12 months. Weight and height were measured and calculated into z-scores, which were used to classify the nutritional status based on the World Health Organization growth charts and American Society for Parenteral and Enteral Nutrition standards. The Bayley Scales of Infant and Toddler Development were used to evaluate the developmental levels of gross motor, fine motor, cognition, receptive communication, and expressive communication.

Results: A total of 479 infants at high risk of CP were recruited, with 43.4% classified as undernutrition. Compared to those with normal neurodevelopment, the odds of moderate and severe undernutrition were about 1.8 and 3.9 times higher in gross motor delay, 2.2 and 3.1 times higher in fine motor delay, 2.5 and 9.4 times higher in cognition delay, 2.2 and 3.9 times higher in receptive communication delay, and 3.0 and 5.6 times higher in expressive communication delay. There were significant positive correlations between nutritional status and neurodevelopmental levels (P < 0.001).

Interpretation: Undernutrition and neurodevelopmental delays are prevalent among infants at high risk of CP. Worse nutritional status was correlated with lower neurodevelopmental levels.

Importance: Viral encephalitis is one of the main causes of the perisylvian syndrome, which can cause damage to children's language-speech, feeding, and swallowing functions. Comprehensive assessment of language-speech and swallowing function and comorbidity research on these children will help children's rehabilitation workers to better understand the disease and strengthen the systematic management of comorbid disorders.

Objective: To describe speech and language pathology and the occurrence of comorbid disorders in children with perisylvian syndrome induced by viral encephalitis.

Methods: Twenty-two children with acquired perisylvian syndrome were recruited in this study. Language and speech functions, including oral motor function, swallowing function, language ability, and dysarthria were assessed in these patients. Craniocerebral magnetic resonance imaging (MRI), electroencephalogram examination, and intelligence evaluation were performed to determine brain lesions and comorbid disorders.

Results: All children exhibited different degrees of oral movement, dysphagia, and speech and language disorders. There was a significant difference between expressive and receptive language ability (P < 0.05). There were 10, 8, and 12 children who had an intellectual disability, limb disability, and epilepsy, respectively. In addition to the damage of the peri-tegmental cortex found in MRI, thalamus lesions occurred in 19 cases and white matter involvement in six cases.

Interpretation: Children with acquired perisylvian syndrome caused by viral encephalitis are characterized by persistent pseudobulbar dysfunction, speech and language impairment, and orofacial diplegia. They have a high probability of secondary epilepsy and are prone to motor and cognitive impairment, which need systematic management.

The tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) Checklist is a reliable global screening tool for TAND in clinical settings, with six dimensions and 12 sections. For Chinese individuals with TSC, the implementation of the TAND Checklist provides a comprehensive approach to evaluating potential manifestations across various domains.

Importance: The diagnosis of congenital auricular deformity often relies on the clinical experience of clinicians, leading to a high incidence of misdiagnosis and missed diagnosis due to the lack of quantitative diagnostic criteria.

Objective: To characterize auricle morphology in newborns from southern China and explore the underlying etiology of congenital auricle deformity.

Methods: A total of 636 neonates (1272 ears) with less than seven days old were included. The auricles of each infant were measured and photographed. The relationship between maternal factors and the occurrence of congenital auricle deformity was analyzed.

Results: The incidence of auricular deformity in southern China was 79.87%. Helical rim deformity and mixed deformity had the highest incidence (17.30% each), while cryptotia had the lowest incidence (0.31%). Among mixed deformities, lop ear with conchal crus ear was the most common (22.73%). Each type of auricle deformity had distinct measurement indicators: the vertical distance of cephalo-auricular was 73.97% longer and cephalo-superaurale was 70.00% longer in protruding ears compared to normal auricle; the vertical distance of cephalo-auricular was 10.96% less in lop ears, 15.07% less in conchal crus ears, and 41.1% longer in cup ears; the distance between helix and antihelix was 22.35% less in constricted ear, 12.94% greater in helical rim deformity, and 43.53% greater in Stahl's ear. Family history of hereditary ear deformity and paternal smoking were significant factors associated with ear deformity in southern China.

Interpretation: The incidence of auricle deformities is high in southern China, with significant differences in the morphometric structures of different auricle types.

Importance: Gastrointestinal complications are common perioperative complications in children with congenital heart disease (CHD), and as near-infrared reflectance spectroscopy (NIRS) provides a non-invasive, real-time monitoring of regional tissue oxygenation, we envisioned monitoring and preventing the development of gastrointestinal complications through the use of NIRS.

Objective: To assess the utility of NIRS for predicting gastrointestinal complication risks and determining optimal initial feeding times in infants post-cardiac surgery.

Methods: This retrospective study included 65 infants with CHD treated at our hospital from January 2021 to January 2022. We collected and analyzed data on mesenteric regional venous and arterial oxygen saturation, arterial partial pressure of oxygen, first lactic acid levels, timing of initial enteral feeding, and incidence of gastrointestinal complications.

Results: Out of 65, 61 infants were eligible for inclusion (four cases were excluded). Infants with gastrointestinal complications post-surgery showed significantly lower mesenteric NIRS values and earlier feeding times compared to those without complications (55.5 ± 3.3 vs. 59.6 ± 6.3, P = 0.029; and 59.8 ± 6.7 vs. 66.9 ± 5.7, P = 0.002, respectively). Multivariable binary logistic regression analysis revealed that mesenteric NIRS readings at the time of initial feeding independently predicted gastrointestinal complications (odds ratio, 0.802; 95% confidence interval, 0.693-0.928; P = 0.003). receiver operating characteristic curve analysis indicated a significant predictive value of mesenteric NIRS at initial feeding time (area under the curve: 0.799), with a suggested critical threshold of 63.1% (93% sensitivity, 70% specificity). Pearson correlation test confirmed a significant association between mesenteric NIRS at initial feeding time and the establishment of enteral feeding.

Interpretation: Mesenteric NIRS measurements at the time of initial feeding provide a reliable method for identifying infants at risk of gastrointestinal complications following cardiac surgery and can inform decisions regarding the timing of initial postoperative feeding.

Importance: Aicardi-Goutières syndrome (AGS) is a rare genetic disorder mainly affecting the central nervous system and autoimmunity. However, research on AGS among Chinese patients is limited.

Objective: To summarize the neurologic phenotypes and genetic causes in pediatric AGS patients, providing insights for early recognition and diagnosis in the Chinese population.

Methods: Clinical features and neuroimaging results of the patients diagnosed with AGS from Beijing Children's Hospital between January 2018 and January 2022 were collected. Whole exome sequencing was used for genetic analysis.

Results: A total of 15 patients was included, all presenting with various neurological symptoms, including developmental delay (100%), motor skill impairment (100%), language disability (78.6%), dystonia (93.3%), microcephaly (73.3%), sleep disorders (26.7%), regression (20.0%), vessel disease (6.7%), and epilepsy (6.7%). Neuroimaging revealed intracranial calcification (86.7%), cerebral atrophy (73.3%), and leukodystrophy (73.3%). Seven genes were identified, with TREX1 being the most common (40.0%, 6/15), followed by IFIH1 (20.0%, 3/15). Variant c.294dupA (p.C99Mfs*3) was detected in four unrelated patients, accounting for 66.7% (4/6) patients with the TREX1 variant. A literature review showed that TREX1 gene mutations in 35.6% (21/59) of AGS patients among the Chinese population.

Interpretation: Neurological symptoms are the most prevalent and severe presentation of AGS. Diagnosis may be considered when symptoms such as developmental delay, dystonia, microcephaly, brain calcification, and leukodystrophy emerge. TREX1 mutations are predominant in the Chinese population.