ABSTRACT
Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects. Here, we demonstrate that mutations in the human TBX5 gene underlie this disorder. TBX5 was cloned from the disease locus on human chromosome 12q24.1 and identified as a member of the T-box transcription factor family. A nonsense mutation in TBX5 causes Holt-Oram syndrome in affected members of one family; a TBX5 missense mutation was identified in affected members of another. We conclude that TBX5 is critical for limb and heart development and suggest that haploinsufficiency of TBX5 causes Holt-Oram syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Arm/abnormalities , Heart Defects, Congenital/genetics , Mutation , T-Box Domain Proteins , Transcription Factors/genetics , Abnormalities, Multiple/embryology , Amino Acid Sequence , Animals , Arm/embryology , Base Sequence , Chromosomes, Human, Pair 12 , Cloning, Molecular , DNA , DNA Mutational Analysis , Heart Defects, Congenital/embryology , Humans , Molecular Sequence Data , Sequence Homology, Amino Acid , SyndromeABSTRACT
BACKGROUND AND PURPOSE: The purpose of this study was to assess the perceptions of physical therapists regarding their involvement in patient education. We developed a questionnaire to assess procedures or activities taught, methods or tools used, important physical therapist behaviors, techniques used to assess the effectiveness of teaching, barriers to delivering effective education, relative value of patient care activities as compared with other activities, and factors contributing to the development of teaching skills. SUBJECTS AND METHODS: The questionnaire was sent to 300 American Physical Therapy Association members nationwide chosen by a random sample. Two hundred questionnaires, or 69% of the eligible responses were used in the data analysis. RESULTS: Most respondents indicated they teach 80% to 100% of their patients. Nearly all respondents teach range-of-motion techniques, home programs, and treatment rationale through the use of demonstration and verbal discussion. Most respondents recognize the importance of many therapist behaviors related to patient teaching and use observation and evaluation to assess the effectiveness of their teaching. Barriers to patient education most frequently cited were psychological factors of the patient. Interaction with patients was considered most important to the development of respondents' teaching skills. CONCLUSION AND DISCUSSION: Implications and suggestions for further research are discussed.
