ObjectiveTo study the diagnosis efficacy of controlled attenuation parameters (CAP) and liver stiffness measurement (LSM) in the transient elastography of non-alcoholic fatty liver disease (NAFLD) and its subtypes in children with obesity.MethodsRetrospectively analyze children with obesity in the Childhood Obesity Clinic of the Affiliated Hospital of Hangzhou Normal University from July 2020 to March 2021. The correlation between clinical data and NAFLD subtypes was analyzed, and included the relevant clinical data into the receiver operating characteristic curve for diagnosis and prediction.Results120 children aged between 6.1 and 17.8 years, with 70 males (58.33%), 50 females (41.67%), and a ratio of 1.4:1, were enrolled in the study. CAP and LSM correlated in all subtypes of NAFLD. The correlation was significant for diagnosing NAFLD in children with obesity when CAP > 258.00 dB/m and LSM > 4.65 kPa. It was also significant for NASH diagnosis when CAP > 276.00 dB/m and LSM > 5.15 kPa, while it was less significant for diagnosing NAFLD in children with obesity.ConclusionsCAP and LSM have diagnostic efficacy for NAFLD and its subtypes in children with obesity, with optimal predictive values of CAP > 258.00 dB/m and LSM > 4.65 kPa for NAFLD in children with obesity, and CAP > 276.00 dB/m and LSM > 5.15 kPa for NASH in children with obesity.

ObjectiveTo explore the correlation between sleep disorders and attention-deficit–hyperactivity disorder (ADHD) in children.MethodsWe studied 100 Chinese children (70 boys and 30 girls; mean age, 8.77 ± 2.39 years). Parents completed the Children's Sleep Disturbance Scale (SDSC) and the Swanson Nolan and Pelham Version IV Scale (SNAP-IV) questionnaires. SNAP-IV and SDSC scores were compared in children with and without sleep disorders and ADHD.ResultsThere were significant differences in SDSC scores, Arousal Disorder (AD) scores, and Sleep Breathing Disorder (SBD) scores between children with and without ADHD (P < 0.05). The sleep disorder group had higher SNAP-IV scores than the non-sleep disorder group (P < 0.05). Children with sleep disorders showed higher ADHD symptom values (inattention, hyperactivity/impulsivity, and oppositional defiance) than children without sleep disorders (P < 0.01). There was a moderate correlation between SDSC scores and SNAP-IV scores (r = 0.486, P < 0.05). Using SNAP-IV scores as the dependent variable, multiple linear regression analysis was applied, and a statistically significant effect of AD and Sleep–Wake Transition Disorder (SWTD) scores on SNAP-IV scores was found (P < 0.05). The area under the curve (95% CI) of the SDSC score for predicting sleep disorders with ADHD was 0.714 (0.606, 0.821; P = 0.0005).ConclusionChildren with ADHD are prone to sleep disorders. The higher the ADHD symptom score, the more sleeping problems. Sleep disorders can also cause or exacerbate ADHD symptoms, and the ADHD symptom score correlates with sleep disorder severity. We can reduce the severity of attention-deficit–hyperactivity in children with ADHD by improving their sleep with behavioral sleep interventions.

Background Periventricular nodular heterotopia (PNH), associated with FLNA mutations, is a rare clinical condition potentially associated with multiple systemic conditions, including cardiac, pulmonary, skeletal, and cutaneous diseases. However, due to a paucity of information in the literature, accurate prognostic advice cannot be provided to patients with the disease. Case presentation We report a 2-year-old female whose PNH was associated with a nonsense mutation in the q28 region of the X chromosome, in exon 31 of FLNA (c.5159dupA). The patient is currently seizure-free and has no congenital heart disease, lung disease or skeletal or joint issues, and her development is normal. Conclusions FLNA-associated PNH is a genetically-heterogeneous disease, and the FLNA mutation, c.5159dupA (p.Tyr1720*) is a newly identified pathogenic variant. FLNA characterization will help the clinical diagnosis and treatment of PNH and provide individualized genetic counseling for patients.