The clinical effects of Orff music therapy on children with autism spectrum disorder: a comprehensive evaluation.

Objective: This study aimed to investigate the clinical effects of Orff music therapy on children with Autism Spectrum Disorder (ASD) from the perspectives of parents, evaluators, and therapists. Methods: 93 children with ASD aged 3-6 years participated in the study. They were divided into an observation group (n = 48) receiving comprehensive rehabilitation intervention including Orff music therapy, and a control group (n = 45) receiving only comprehensive rehabilitation intervention. The Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), and Psycho-educational Profile-3rd edition (PEP-3) were used for assessments before and after the intervention. Results: There were no significant demographic differences between the two groups. Both groups showed significant improvements in Sensory, Relating, Language, CVP, EL, RL, VMI, AE, SR, and CARS scores at T1, T2, and T3 (T1 vs. T2, T2 vs. T3, T1 vs. T3) (all p < 0.05). The observation group demonstrated significant changes in Body and Object use and FM, while the control group showed some changes in these domains. Social and self-help, GM, CMB, and CVB also significantly improved in both groups after 6 months of intervention (all p < 0.05). In terms of different time intervals, the observation group showed greater improvements in Sensory, Relating, Language, CARS scores, EL, RL, and SR compared to the control group (all p < 0.05). The improvement levels in Body and Object use, CVP, FM, VMI, and AE did not differ significantly between the two groups in the T1-T2 interval, but were significantly higher in the observation group in the T2-T3 and T1-T3 intervals (all p < 0.05). The magnitude of changes in Social and self-help, GM, CMB, and CVB did not differ significantly between the groups. Conclusion: Orff music therapy showed significant improvements in language expression, language comprehension, social skills, cognitive abilities, imitation abilities, emotional expression and fine motor in children with ASD. These findings provide support for the use of Orff music therapy as an effective intervention for children with ASD.

The function of chemical folic acid in calibration methods and neurodevelopmental disorders.

Functional molecules have been attracting increasing attention in environmental and physiological studies. In particular, folic acid (FA) could be considered a key factor in estimating, adjusting, and making decisions in the treatment of neurodevelopmental disorders. It promotes the general significance and conceptual for considering FA molecular scientific research detections, which implies related advancement in both of biological structure and detection methods. Among these applications, the FA molecule acts as a coenzyme that incorporates carbon atoms and synthesizes purines and pyrimidines. Therefore, the calibration method has real applications and can be used as a sensing platform and for detection approaches, which conveys the internal relationship between the FA molecule and physiological characterization. This mini review briefly discusses multiple FA application fields and detection pathways and could supplement their utilization in anticipation of the onset of disease.

Diagnostic markers of metabolic bone disease of prematurity in preterm infants.

Due to the higher birth rate of preterm infants and improvements in their management, metabolic bone disease of prematurity (MBDP) has a high incidence and is attracting attention. However, clear indicators for the early diagnosis of MBDP are lacking. We aimed to explore simple and feasible early warning indicators for diagnosing MBDP. Our study collected case data of premature infants from two medical centers in Chongqing from January 2020 to February 2022. According to the inclusion and exclusion criteria, data from 136 cases were collected. The correlation between 14 variables in each case and the occurrence of MBDP was analyzed. According to area under the receiver operating characteristic curve (AUROC) analysis, the best cutoff value for each variable was determined. Potential predictors were selected, and Least Absolute Shrinkage and Selection Operator (LASSO) regression analysis was used to establish the association of two models with MBDP, whose results were used to develop a diagnostic nomogram. Furthermore, a model decision curve was analyzed. Four predictors were selected from 14 clinical variables by LASSO regression, and Model I was established, including the following characteristics: height (>36 cm), head circumference (≤29.49 cm), total serum calcium (Ca) (>2.13 mmol/L), and alkaline phosphatase (ALP) (>344 U/L) levels. A single predictor, the ALP level (>344 U/L), was used to establish Model II. The AUROC values of the two models were 0.959 for Model I and 0.929 for Model II. In conclusion, in this study, two diagnostic models of MBDP were developed using four combinations of predictors and ALP as a single predictor. Both models showed good sensitivity and specificity for the early diagnosis of metabolic bone disease (MBD), and an ALP level of 344 U/L was defined as a simple and effective diagnostic threshold. In future studies, using larger samples, diagnostic threshold values of ALP for premature infants of different ages should be established, and internal and external validations are needed to improve the adaptability of the current model.

Regressive Autism Spectrum Disorder: High Levels of Total Secreted Amyloid Precursor Protein and Secreted Amyloid Precursor Protein-α in Plasma.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by social communication difficulties, repetitive behaviors, and parochial interests. Individuals with regressive ASD (RA), a unique subtype, have poor outcomes. Moreover, there are currently no validated blood-based biomarkers for ASD, hindering early diagnosis and treatment. This study was the first to examine plasma levels of total secreted amyloid precursor protein (sAPPtotal), secreted amyloid precursor protein-α (sAPPα), and secreted amyloid precursor protein-ß (sAPPß) in children diagnosed with RA (n = 23) and compare them with the levels in age-matched children with non-regressive ASD (NRA) (n = 23) and typically developing (TD) controls (n = 23). We found that sAPPtotal and sAPPα levels were significantly higher in children with RA than in children with NRA or in TD controls. In contrast, no difference was observed in sAPPß levels. In conclusion, increased plasma levels of sAPPtotal and sAPPα may be valuable biomarkers for the early identification of ASD regression. Prospective studies will be conducted using a larger sample to further investigate these differences.

Dynamic trend in alkaline phosphatase activity in infants aged 0-12 months revealed by an indirect approach.

OBJECTIVE: Alkaline phosphatase (ALP) is a ubiquitous enzyme in humans that can be used for diagnosing childhood diseases. Infants have the highest rapid growth rate and are susceptible to metabolic bone diseases. In infants, ALP activities exhibit significant month-wise variations, and authoritative standards are lacking. The present study aimed to provide a reference for the diagnosis of diseases related to abnormal ALP activities in infants. METHODS: This study included 24,618 samples collected from infants aged 0-12 months from three medical centers in Chongqing, China. Samples of infants diagnosed with diseases that may affect ALP activity have been exclude. ALP activity was analyzed using an automatic biochemical analyzer. A percentile curve for ALP activity in male and female infants was constructed using MATLAB, and the skewness-median-coefficient of variation method was employed for curve fitting. RESULTS: ALP activity in male and female infants peaked at 0-4 months; the peak appeared at 1-2 months and declined gradually thereafter. After 4-5 months of age, the ALP activities declined further, with the lowest values observed at 11-12 months of age. A comparison between the data from this study and a those from a published German study indicates that Chinese infants exhibited peak ALP activity later and subsequent decline greater than German infants. CONCLUSIONS: A percentile curve was constructed for month-wise ALP activity in male and female infants, which could provide a reference for diagnosing diseases related to abnormal ALP activity in infants.

A comparative study between traditional head measurement and structured light three-dimensional scanning when measuring infant head shape.

BACKGROUND: This study aimed to evaluate the correlation and consistency between traditional head measurement and structured light three-dimensional (3D) scanning parameters when measuring infant skull shape. METHODS: A total of 76 infants aged 3 months to 2.5 years old were included in the study. Head circumference (HC) was measured with a tape measure. The transverse, anteroposterior, and oblique diameters were measured using a spreading caliper, and the cranial vault asymmetry index (CVAI) and a cranial index (CI) of symmetry were calculated; 76 cases were measured successfully. The above indexes were measured using a structured light 3D scanning system (71 cases were measured with success). Thus, in the end, the valid data of 71 cases were analyzed, and the measurements of the two approaches were compared. RESULTS: The 95% confidence interval of traditional head measurement and structured light 3D scanning was between 0.633 and 0.988. Pearson's correlation coefficient indicated a high correlation between the two methods (r=0.793-0.980). The correlation coefficients of the transverse diameter, anteroposterior diameter, and HC, and the CI of symmetry were higher than 0.9. The lowest correlation coefficient for the CVAI was 0.793. The P values of the above measurement data were all <0.001, which indicated that they were closely related. A Bland-Altman plot indicated reasonable consistency between the two methods. CONCLUSIONS: Both traditional head measurement and structured light 3D scanning are suitable for the measurement of infant head shape. However, while traditional head measurement using a spreading caliper is economical and simple, making it suitable for general screening at a basic level, structured light 3D scanning can deliver additional parameters, which is useful for infants with an abnormal head shape. The latter is also convenient for designing a customized helmet for skull correction when needed.

[Interpretation of the first international consensus for Cornelia de Lange syndrome].

Cornelia de Lange syndrome (CdLS) is a genetic syndrome with severe neurodevelopmental disorders as the main manifestation. Its clinical manifestations included mental retardation, typical facial features, intrauterine and postnatal developmental delay, and deformity in multiple organs and systems, with an incidence rate of about 1/10000 to 1/30000. International CdLS Consensus Group was established in 2017 and issued the first international consensus on CdLS, i.e., "Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement", in July 2018. Being developed through a modified Delphi consensus process, this consensus provides guidance on the diagnosis and management of children with CdLS. This article gives an interpretation of this consensus, aiming to help clinicians with early identification, diagnosis, standard follow-up, and management of this disease.

A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.

Protein phosphatase 1 catalytic subunit beta (PPP1CB) is a disease-causing gene of Noonan-like syndrome, which acts via the RAS/MAPK pathway. To date, only 17 patients diagnosed with PPP1CB-related Noonan-like syndrome have been reported around the world, with few reports in Asia. Twelve reported patients are of short stature and only one patient was treated with growth hormone (GH); however, follow-up data is lacking. To the best of our knowledge, this is the first reported patient with complete recombinant human growth hormone (rhGH) treatment follow-up data; the patient has a de novo c.146C>G (p.Pro49Arg) mutation in the PPP1CB gene. The hair pattern of the patient (coarse, curly, slow growing, and fragile) combined with Noonan dysmorphic features, developmental delay, and congenital heart disease, are highly consistent with the typical features observed in Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2). rhGH treatment, administered for 3 years and 8 months, promoted the patient's linear growth. Our findings expand the data regarding the treatment of short stature in patients with NSLH2 caused by PPP1CB mutation. Clinical manifestation, growth and development process, and rhGH therapy effect data will aid in future revision of the relevant diagnosis and treatment guidelines.

[Clinical effect of functional chewing training in treatment of oral motor dysfunction in children with cerebral palsy: a prospective randomized controlled clinical trial].

OBJECTIVE: To study the effect of functional chewing training (FuCT) on masticatory function, the severity of tongue thrust, and the severity and frequency of drooling in children with cerebral palsy. METHODS: A prospective study was performed for 48 children who were diagnosed with oral motor dysfunction from January 2019 to January 2020, and they were randomly divided into an FuCT group and an oral motor training group, with 24 children in each group. Both groups received FuCT or oral motor training for 12 weeks, and then they were evaluated in terms of the changes in the masticatory function, the severity of tongue thrust, and the severity and frequency of drooling. RESULTS: There were no significant differences between the two groups in the masticatory function, the severity of tongue thrust, and the severity and frequency of drooling before treatment (P>0.05). After the 12-week training, the FuCT group showed significant improvements in the masticatory function and the severity of tongue thrust and drooling (P<0.05), but with no improvement in the frequency of drooling (P>0.05), while the oral motor training group had no improvements in the masticatory function, the severity of tongue thrust, and the severity and frequency of drooling (P>0.05). After the 12-week training, the FuCT group had more significantly improvements in the severity of tongue thrust and the severity and frequency of drooling than the oral motor training group (P<0.05). CONCLUSIONS: FuCT can effectively improve the masticatory function, the severity of tongue thrust, and the severity and frequency of drooling in children with cerebral palsy.