PHYSICAL FUNCTION IN INDIVIDUALS WITH DIGEORGE SYNDROME

This preliminary study was conducted to assess physical function in individuals with DiGeorge syndrome, also known as velo-cardio-facial syndrome, as compared to healthy individuals. Assessment of physical function across the lifespan is essential in order to maintain physical abilities, better educate families, and bring a higher quality of life to individuals with this disorder. Purpose (a): DiGeorge syndrome, also known as velo-cardio-facial syndrome (VCFS) or 22q11.2 deletion syndrome, is the most common chromosomal deletion syndrome, with an estimated incidence of approximately 1 in 2,000 to 7,000 live births. Clinical presentation of VCFS is highly variable and has more than 180 distinct clinical manifestations. Previous studies have shown, children with VCFS exhibit gross motor abnormalities and global developmental delay. However, little is known about physical function in individuals with VCFS. This preliminary study compares physical function in individuals with and without the syndrome. Methods (b): This study was conducted on 43 individuals, 24 with VCFS (13 males, 11 females) and 19 healthy individuals (6 males, 13 females). Physical function was tested: Timed Up and Go (TUG) test to measure power and velocity, Sit-to-Stand Test (STS) to measure lower extremity strength, Single Leg Stance (SLS) to measure posture stability, handheld dynamometer to measure grip strength, and the 2-minute walk test (2MWT) to measure endurance and gait velocity. Descriptive statistics and the ANOVA test were used to assess differences in physical function between groups and within the group with the syndrome. Results (c): Significant differences between the group with VCFS and the group with healthy individuals were identified in the TUG (7.40±1.45 vs 6.33±1.04; p < .01); right SLS (12.62±12.81 vs 52.27±34.54; p < .001); left SLS (10.09±9.02 vs 52.60±36.19; p < .001); and the 2MWT (469.08±74.09 vs 580.58±105.07; p < .001), but no difference was identified in STS and grip strength. Additionally, significant differences within the group with the syndrome, based on age difference (20 yrs of age), were identified in the 2-minute walk (p. Conclusions (d): Data from this preliminary study indicate individuals with VCFS present with decreased physical function as compared to healthy individuals. Results suggest early assessment procedures for individuals with this condition should include assessment of physical function, especially mobility function. Continued assessment of physical function across the lifespan is essential in order to maintain physical abilities, better educate families, and bring a higher quality of life to individuals with this disorder.