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Genetic factors are considered to play a critical role in patients with early-onset Parkinson’s disease (EOPD). The genetic spectrum of EOPD patients has been extensively investigated in Caucasian populations but rarely in the Chinese population. In this study, a total of 21 unrelated Chinese EOPD patients were enrolled. Multiplex ligation-dependent probe amplification assay and whole-exome sequencing were performed, followed by Sanger sequencing. Detailed clinical features were presented. Two novel likely pathogenic variants (p.Q648X in ATP13A2 and p.N521fs in PINK1) and 10 previously reported Parkin pathogenic variations (exon 2 deletion, exon 3–4 deletion, exon 4 deletion, exon 6–7 deletion, exon 7 deletion; p.G284R, p.G329 V, p.R366W, p.N428fs, p.M458 L) were identified in 9 out of 21 (42.86%) patients. The frequency (33.33%) of Parkin variations is much higher in our cohort than that in the East Asian population. The patient carrying the ATP13A2 variant showed no response to levodopa treatment. Our findings broaden the genetic spectrum and clinical features of EOPD patients.

The Psychoeducational Profile-Third Edition (PEP-3), a standardized and norm-referenced scale, is designed to assess the development of communication and motor skills and the presence of maladaptive behaviors in children with autism spectrum disorder (ASD). The purpose of this study was to develop a short form of the PEP-3, the SF-PEP3, which would reduce the administration time while maintaining the psychometric properties similar to the original version. The study consisted of two parts: development and cross-validation of the SF-PEP3. In the first part, 116 children with ASD were recruited and assessed with the Chinese Psychoeducational Profile-Third Edition (CPEP-3). After 6 months, 63 of them were assessed again. We developed the SF-PEP3 by selecting the items with the highest internal consistency and the greatest responsiveness. The easiest and the most difficult items were added because of the notable ceiling and floor effects. The psychometric properties of the 4 versions of the SF-PEP3 were compared with the original CPEP-3. The score distribution, the reliability, and the concurrent validity of the 73-item SF-PEP3 were better than those of the 57-item and 66-item SF-PEP3s. The responsiveness of the 73-item SF-PEP3 was better than those of the 79-item SF-PEP3 and the original CPEP-3. Thus, the 73-item SF-PEP3 was determined to be the best. In the second part, 101 children with ASD were recruited, and 35 of them were followed up after 1 year. The psychometric properties of the 73-item SF-PEP3 were cross-validated and found to be similar to those of the original CPEP-3. In conclusion, the 73-item SF-PEP3 has been developed and shown to be psychometrically similar to the original CPEP-3. It is recommended that the 172-item CPEP-3 be used in the initial evaluation and that the subtests or composites scores of the 73-item SF-PEP3 be used as the outcome indicators for children with ASD.

The purpose of this study was to examine the inter-rater reliability of the Chinese version of the Psychoeducational Profile-third edition (CPEP-3) in children with Autism Spectrum Disorder. We also calculated the smallest real difference (SRD) for users to determine whether the change score rated by different raters for an individual child is valid. The CPEP-3 was administered to 42 children aged from 2 years 4 months to 7 years 7 months by two independent therapists twice, with an 11- to 21-day interval. The high internal consistency for performance subtests (Cronbach's alpha = 0.92–0.98) and composites (Cronbach's alpha = 0.92–0.95) in the CPEP-3 indicates the homogeneity of all the items in each subtest and composite. The inter-rater reliability of the CPEP-3, examined by intra-class correlation coefficient, ranged from 0.57 to 0.94 for the performance subtests, and 0.63 to 0.89 for the composites. The SRDs of the CPEP-3 ranged from 5.8 to 12.8 for the performance subtests, and 7.3 to 18.0 for the composites. The SRDs of the CPEP-3 were 14.4–51.8% of the possible highest scores of each subtest and composite. The substantial SRDs indicate that clinicians should consider such SRD values in determining whether a child's change score of the CPEP-3 indicates real change when the CPEP-3 is administered by different raters. Further studies to examine the construct validity, responsiveness, and minimally important difference of the CPEP-3 are needed to improve the utility of the CPEP-3.