Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange syndrome
children; Rehabilitation; communication; Education & Educational Research; brachmann-delange syndrome; functional-analysis; phenotype; assessments; evaluate aberrant behavior; mutilative behavior; skills; behavioral problems; De Lange syndrome; trajectory characteristics; self-injury; self injurious behavior
Cornelia de Lange syndrome is reported to be associated with self-injurious behavior (SIB) and social avoidance. We used analog methodology to examine the effect of manipulating adult social contact on social communicative behaviors and SIB in 16 children with this syndrome. For 9 participants engagement behavior was related to levels of adult attention, and SIB showed significant variability across conditions for 3 participants. These findings indicate that SIB can be affected by environmental factors, even though it is thought to be part of the behavioral phenotype of Cornelia de Lange syndrome and suggest that individuals with this syndrome show socially motivated attention-soliciting behaviors. The implications for gene-environment interactions are discussed.
Oliver C; Arron K; Hall S; Sloneem J; Forman D; McClintock K
American Journal on Mental Retardation
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1352/0895-8017(2006)111%5B184:EOSCOS%5D2.0.CO;2" target="_blank" rel="noreferrer noopener">10.1352/0895-8017(2006)111[184:EOSCOS]2.0.CO;2</a>
Reliability and Validity of the TIMPSI for Infants With Spinal Muscular Atrophy Type I
infant; children; Pediatrics; Rehabilitation; motor; female; male; assessments; childhood/physiopathology; humans; spinal muscular atrophies of; child development; childhood/diagnosis; functional motor scale; observer variation; performance; physical therapy; physical therapy specialty/standards; reproducibility of results; skills/physiology; specialty/instrumentation; video recording; tone and motor problems; SMA1; tool development; scale development; TIMP
Purpose: This study examined the reliability and validity of the Test of Infant Motor Performance Screening Items (TIMPSI) in infants with type I spinal muscular atrophy (SMA). Methods: After training, 12 evaluators scored 4 videos of infants with type I SMA to assess interrater reliability. Intrarater and test-retest reliability was further assessed for 9 evaluators during a SMA type I clinical trial, with 9 evaluators testing a total of 38 infants twice. Relatedness of the TIMPSI score to ability to reach and ventilatory support was also examined. Results: Excellent interrater video score reliability was noted (intraclass correlation coefficient, 0.97-0.98). Intrarater reliability was excellent (intraclass correlation coefficient, 0.91-0.98) and test-retest reliability ranged from r = 0.82 to r = 0.95. The TIMPSI score was related to the ability to reach (P <= .05). Conclusion: The TIMPSI can reliably be used to assess motor function in infants with type I SMA. In addition, the TIMPSI scores are related to the ability to reach, an important functional skill in children with type I SMA. (Pediatr Phys Ther 2013;25:140-148)
Krosschell K J; Mazulski J A; Scott C; King W; Hartman J T; Case L E; Viazzo-Trussell D; Wood J; Roman C A; Hecker E; Meffert M; Leveille M; Kienitz K; Swoboda K J; Project Cure Spinal Muscular Atrophy Investigators
Pediatric Physical Therapy
2013
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1097/PEP.0b013e31828a205f" target="_blank" rel="noreferrer noopener">10.1097/PEP.0b013e31828a205f</a>