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Wang S-Y1, Lee W-T2,3, Shieh J-Y4, Wong L-C2,5, Wu Y-T1,4
1National Taiwan University, School and Graduate Institute of Physical Therapy, Taipei, Taiwan, 2National Taiwan University Hospital, Department of Pediatrics, Taipei, Taiwan, 3National Taiwan University, Graduate Institute of Brain and Mind Sciences, Taipei, Taiwan, 4National Taiwan University Hospital, Department of Physical Medicine and Rehabilitation, Taipei, Taiwan, 5Cathay General Hospital, Department of Pediatrics, Taipei, Taiwan
Background: Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder that usually affects females and is commonly linked to methyl-CpG-binding protein 2 (MECP2) mutations. The prevalence of RTT has been estimated to be 1 in 10,000-15,000. The clinical features of children with RTT are characterized by severe developmental delays, autistic-like traits and stereotypic hand movements. So far, very few studies have examined overall developmental performance in children with RTT using standardized developmental assessment instruments. Furthermore, although some behavioral symptoms in RTT are similar to children with autism spectrum disorder (ASD), no studies have compared the overall developments in RTT with children with ASD and typically developing (TD) children.
Purpose: To examine the overall developmental performances in children with RTT using standardized assessment instruments, and to compare with TD children and children with ASD.
Methods: In total, 31 children with RTT (mean age: 127 months), 41 children with ASD (mean age: 33 months) and 90 TD children (mean age: 31 months) were included. All participants' cognitive, language and motor developments were assessed using the Mullen Scales of Early Learning (MSEL). Child's behavioral functions were assessed using the Vineland Adaptive Behavior Scales (VABS) and the Repetitive Behavior Scale-Revised (RBS-R). The MSEL, VABS-II and RBS-R scores were compared among the 3 groups by using the Kruskal-Wallis one-way ANOVA. If a main significant effect was observed among the groups, a post hoc test was used to test pairwise comparisons.
Results: Children with RTT exhibited the lowest scores in all MSEL and VABS subscales among the groups as comparing to children with ASD and TD toddlers (all p's 0.05). Furthermore, the results of RBS-R showed that children with RTT performed higher scores in 2 subscales (i.e., Stereotype and Self-injury behavior) than those of TD children. By contrast, children with RTT showed lower scores in 4 subscales (i.e., Compulsive, Routine, Sameness and Restricted behaviors) than those of children with ASD, whereas the scores of stereotype and self-injury behaviors were comparable between children with RTT and children with ASD.
Conclusion(s): The results of this study revealed that children with RTT manifested poor level of cognitive, language, motor and adaptive behavior developments than those of children with ASD and TD children. Furthermore, our findings revealed that children with RTT performed lower or comparable degree of several domains of repetitive behaviors as comparing to the children with ASD.
Implications: The results provide valuable developmental profiles in children with RTT. Physical therapists and clinicians should aware of differentiating developmental performances of children with RTT from children with ASD. The findings highlight the needs of comprehensive assessment and early interventions on multiple developmental domains for children with RTT.
Keywords: Rett syndrome, ASD, Development
Funding acknowledgements: This study was supported by Ministry of Science and Technology, R.O.C. (MOST 106-2314-B-002 -050 -MY3)
Purpose: To examine the overall developmental performances in children with RTT using standardized assessment instruments, and to compare with TD children and children with ASD.
Methods: In total, 31 children with RTT (mean age: 127 months), 41 children with ASD (mean age: 33 months) and 90 TD children (mean age: 31 months) were included. All participants' cognitive, language and motor developments were assessed using the Mullen Scales of Early Learning (MSEL). Child's behavioral functions were assessed using the Vineland Adaptive Behavior Scales (VABS) and the Repetitive Behavior Scale-Revised (RBS-R). The MSEL, VABS-II and RBS-R scores were compared among the 3 groups by using the Kruskal-Wallis one-way ANOVA. If a main significant effect was observed among the groups, a post hoc test was used to test pairwise comparisons.
Results: Children with RTT exhibited the lowest scores in all MSEL and VABS subscales among the groups as comparing to children with ASD and TD toddlers (all p's 0.05). Furthermore, the results of RBS-R showed that children with RTT performed higher scores in 2 subscales (i.e., Stereotype and Self-injury behavior) than those of TD children. By contrast, children with RTT showed lower scores in 4 subscales (i.e., Compulsive, Routine, Sameness and Restricted behaviors) than those of children with ASD, whereas the scores of stereotype and self-injury behaviors were comparable between children with RTT and children with ASD.
Conclusion(s): The results of this study revealed that children with RTT manifested poor level of cognitive, language, motor and adaptive behavior developments than those of children with ASD and TD children. Furthermore, our findings revealed that children with RTT performed lower or comparable degree of several domains of repetitive behaviors as comparing to the children with ASD.
Implications: The results provide valuable developmental profiles in children with RTT. Physical therapists and clinicians should aware of differentiating developmental performances of children with RTT from children with ASD. The findings highlight the needs of comprehensive assessment and early interventions on multiple developmental domains for children with RTT.
Keywords: Rett syndrome, ASD, Development
Funding acknowledgements: This study was supported by Ministry of Science and Technology, R.O.C. (MOST 106-2314-B-002 -050 -MY3)
Topic: Paediatrics; Outcome measurement; Disability & rehabilitation
Ethics approval required: Yes
Institution: National Taiwan University Hospital
Ethics committee: Research Ethics committee D
Ethics number: 201412012RIND
All authors, affiliations and abstracts have been published as submitted.
