The Alberta Infant Motor Scale (AIMS) is widely used to screen for delays in motor development in high-risk infants, but its reliability and validity in Chinese infants have not been investigated. To examine the reliability and concurrent validity of AIMS in high-risk infants aged 0-9 months in China, this single-center study enrolled 50 high-risk infants aged 0-9 months (range, 0.17-9.27; average, 4.14±2.02), who were divided into two groups: 0-3 months (n=23) and 4-9 months (n=27). A physical therapist evaluated the infants with AIMS, with each evaluation video-recorded. To examine interrater reliability, two other evaluators calculated AIMS scores by observing the videos. To measure intrarater reliability, the two evaluators rescored AIMS after >1 month, using the videos. Concurrent validity was assessed by comparing results between AIMS and the Peabody Developmental Motor Scale-2 (PDMS-2). For all age groups analyzed (0-3, 4-9, and 0-9 months), intraclass correlation coefficients (ICCs) for AIMS total score were high for both intrarater comparisons (0.811-0.995) and interrater comparisons (0.982-0.997). AIMS total scores were well correlated with all PDMS-2 subtest scores (ICC=0.751-0.977 for reflexes, stationary, locomotion, grasping, and visual-motor integration subsets). However, the fifth percentile of AIMS total score was only moderately correlated with the gross motor quotient, fine motor quotient, and total motor quotient subtests of PDMS-2 (kappa=0.580, 0.601, and 0.724, respectively). AIMS has acceptable reliability and concurrent validity for screening of motor developmental delay in high-risk infants in China.

Abstract. Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease with early onset. PLA2G6 gene mutations have been identified in the majority individuals with INAD. In future, molecular diagnosis of INAD will replace the invasive biopsies used previously. In the present report, monozygotic male twins with INAD were referred The Children

Currently, no consensus exists regarding Sotos syndrome in the Chinese population. Here, we present a case of neonatal Sotos syndrome, followed by a retrospective analysis of five cases of neonatal Sotos syndrome, reported in China. The study subject was a twin premature infant, heavier than gestational age, with characteristic facial features, limb shaking, and hypertonia. Transient hypoglycemia, abnormal cranial magnetic resonance imaging, multiple nodules in polycystic kidneys and liver, abnormal hearing, patent ductus arteriosus, and an atrial septal defect were also noted. The subject showed overgrowth and developmental retardation at 3 months of age. Sequencing revealed a novel missense mutation, c.5000C>A, in the nuclear receptor binding the SET domain protein 1 gene, resulting in an alanine-to-glutamate substitution. The bioinformatics analysis suggested high pathogenicity at this site. This study provides insights into diagnosis of neonatal Sotos syndrome based on specific phenotypes. Subsequent treatment and follow-up should focus on developmental retardation, epilepsy, and scoliosis.