Multidimensional Developments in Taiwanese Children with Rett Syndrome and Comparing Developmental Abilities to Children with Autism Spectrum Disorder

Autor: Shih-Ya Wang, 王詩雅
Rok vydání: 2019
Druh dokumentu: 學位論文 ; thesis
Popis: 107
Background and Purposes: Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder that is commonly linked to methyl-CpG-binding protein 2 (MECP2) mutations. The clinical features of RTT are characterized by severe intellectual disability (ID), autistic-like traits and stereotypic hand movements. To date, few studies have used standardized developmental assessment tools to assess the multidimensional developments of Taiwanese children with RTT or compare developmental functions in children with RTT with different types of gene mutations. In addition, the developmental and behavioral traits of children with RTT at early ages are similar to those of children with autism spectrum disorder (ASD) and co-occurrence of ID (called ASD-ID). Therefore, RTT could be confused with ASD at the time of early identification and diagnosis. However, comparing developmental abilities in children with RTT to children with ASD-ID have rarely been investigated. Therefore, the present study investigated cognitive, language, motor, behavioral and social communication developments in children with RTT, and to compare their developmental abilities to children with ASD-ID or typical developing (TD) children. Methods: In total, 30 children with RTT who carry MECP2 gene mutation (called RTT-MECP2), 7 carry other gene mutations (called RTT-variants), 26 children with ASD-ID and 37 TD children participated in this study. All participants’ cognitive, language and motor developments were assessed using the Mullen Scales of Early Learning (MSEL). Child’s adaptive behaviors and daily functions were assessed using the Vineland Adaptive Behavior Scales, Chinese Version of Pediatric Evaluation of Disability Inventory, and Repetitive Behavior Scale-Revised. Child’s nonverbal communication skills were assessed using the Early Social Communication Scale. The Mann–Whitney U test was used to examine the differences in developmental indicators between the children in RTT-MECP2 and RTT-variants groups. Furthermore, the Kruskal-Wallis one-way ANOVA test was conducted to compare developmental abilities among children with RTT, children with ASD-ID and TD children. Results: The results showed comparable scores or developmental equivalent ages in all MSEL subscales (all p’s >0.05) between RTT-MECP2 and RTT-variants groups. However, the scores of self-care skills were higher in the RTT-MECP2 than in the RTT-variants groups (p = 0.04). Children in the RTT-MECP2 group displayed higher frequencies of alternate eye gazes in the initiate joint attention (IJA), eye contacts in the initiate behavioral request (IBR) and response to social interaction (RSI) than children in the RTT-variants group did (all p’s > 0.05). In addition, children with RTT exhibited overall poor developmental abilities compared with children with ASD-ID and TD children in multiple developmental domains, whereas comparable degrees in stereotyped and self-injurious behaviors between the RTT and ASD-ID groups (both p’s > 0.05). Moreover, children with RTT demonstrated higher frequencies of alternate eye gazes in the IJA (p = 0.01) and eye contacts in the IBR (p < 0.01), but lower frequencies of reaching movement in the IBR (p = 0.02) than the children with ASD-ID did. Clinical professionals should aware of the crucial developmental indicators for differentiating children with RTT from children with ASD-ID. Furthermore, our findings highlight the needs of comprehensive assessments and early interventions on multidimensional developments for children with RTT.
Databáze: Networked Digital Library of Theses & Dissertations
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