Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.

Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (cerebral ventriculomegaly), the cardinal feature of congenital hydrocephalus (CH), is increasingly recognized among patients with autism spectrum disorders (ASD). KATNAL2, a member of Katanin family microtubule-severing ATPases, is a known ASD risk gene, but its roles in human brain development remain unclear. Here, we show that nonsense truncation of Katnal2 (Katnal2Δ17) in mice results in classic ciliopathy phenotypes, including impaired spermatogenesis and cerebral ventriculomegaly. In both humans and mice, KATNAL2 is highly expressed in ciliated radial glia of the fetal ventricular-subventricular zone as well as in their postnatal ependymal and neuronal progeny. The ventriculomegaly observed in Katnal2Δ17 mice is associated with disrupted primary cilia and ependymal planar cell polarity that results in impaired cilia-generated CSF flow. Further, prefrontal pyramidal neurons in ventriculomegalic Katnal2Δ17 mice exhibit decreased excitatory drive and reduced high-frequency firing. Consistent with these findings in mice, we identified rare, damaging heterozygous germline variants in KATNAL2 in five unrelated patients with neurosurgically treated CH and comorbid ASD or other neurodevelopmental disorders. Mice engineered with the orthologous ASD-associated KATNAL2 F244L missense variant recapitulated the ventriculomegaly found in human patients. Together, these data suggest KATNAL2 pathogenic variants alter intraventricular CSF homeostasis and parenchymal neuronal connectivity by disrupting microtubule dynamics in fetal radial glia and their postnatal ependymal and neuronal descendants. The results identify a molecular mechanism underlying the development of ventriculomegaly in a genetic subset of patients with ASD and may explain persistence of neurodevelopmental phenotypes in some patients with CH despite neurosurgical CSF shunting.

Validation of Bioelectrical Impedance Devices for the Determination of Body Fat Percentage in Firefighters.

ABSTRACT: Jagim, AR, Luedke, J, Erickson, JL, Fields, JB, and Jones, MT. Validation of bioelectrical impedance devices for the determination of body fat percentage in firefighters. J Strength Cond Res 38(8): e448-e453, 2024-To cross-validate bioelectrical impedance devices for the determination of body fat percentage (BF%) in firefighters. Twenty-eight structural firefighters were evaluated (female, n = 2; male, n = 26 [mean ± SD] age: 38.2 ± 8.3 years; height: 180.2 ± 7.5 cm; body mass: 86.7 ± 20.8 kg; body mass index: 25.8 ± 7.8 kg·m-2) using multifrequency bioelectrical impedance analysis (MFBIA) hand-to-foot device, and single-frequency BIA foot scale (F2FBIA), and a single-frequency handheld BIA device (HHBIA). Dual X-ray absorptiometry served as the criterion. Validity metrics were examined to establish each method's performance. Body fat % values produced by MFBIA (r = 0.913), F2FBIA (r = 0.695), and HHBIA (r = 0.876) were strongly associated (p < 0.001) with criterion BF% measures. However, MFBIA, F2FBIA, and HHBIA all significantly (p < 0.001) underestimated BF% when compared with the criterion measure. Constant error ranged between 4.0 and 5.5% across all BIA devices. Despite strong associations between the BIA devices included in the current study and the criterion measure, all BIA devices underestimated BF%, which resulted in an overestimation of fat-free mass. In addition, proportional bias was observed in which BF% was overestimated at lower values and underestimated at higher values.

Seasonal Changes in Match Demands and Workload Distribution in Collegiate Soccer Across Two Seasons.

ABSTRACT: Floersch, S, Vidden, C, Askow, AT, Jones, MT, Fields, JB, and Jagim, AR. Seasonal changes in match demands and workload distribution in collegiate soccer across two seasons. J Strength Cond Res 38(8): 1440-1446, 2024-The purpose of this study was to examine seasonal changes in match demands in a collegiate women's soccer team. Forty-eight NCAA Division III women soccer athletes (age: 19.5 ± 1.2 years; height: 1.67 ± 0.05 m; body mass: 64.8 ± 7.4 kg; fat-free mass: 50.0 ± 4.5 kg; body fat %: 22.6 ± 6.0) were equipped with wearable global positioning systems with inertial sensors and heart rate (HR) monitors during matches throughout the 2019 (n = 22) and 2021 seasons (n = 26). Players were classified by position: flank player (FP; n = 28), center midfielder (CM; n = 11), and center back fielder (CB; n = 9) and as starters (S, n = 17) or reserves (R, n = 31). Variables included HR, training load, total distance, high-speed distance, distance per minute, and weighted distance. Differences in match and practice session demands were analyzed using linear mixed-effects models with season (2 levels; 2019 and 2021) as a fixed factor, with alpha set to p = 0.05. Data across all matches and training sessions were collapsed and presented as mean ± SD for descriptive purposes and then grouped by session type (i.e., match or training) and position. Athletes traveled more distance at high speeds during match play in the 2021 season compared with 2019 (mean difference, 95% confidence intervals [CI]) (200, 95% CI: 104, 304 km; p < 0.05) but had a lower training load in 2021 compared with 2019 (-50, 95% CI: -63, -36; p < 0.05) during match play. For training sessions, mean HR (4, 95% CI: 2, 5 bpm), total distance (0.5, 95% CI: 0.4, 0.7), distance per minute (5.6, 95% CI: 4.5, 6.7 m·min-1), high-speed distance (43, 95% CI: 43, 18, 67 m), high accelerations (8.6, 95% CI: 5.4, 11.8 n), and high accelerations per minute (0.1, 95% CI: 0.1, 0.1 n·min-1) were all higher in 2021 compared with 2019 (p < 0.05). As a team, several differences in measures of external workload were found between seasons in both session types (training and matches). Variations in positional demands of match play appear to fluctuate by year.

Fat-Free Mass Index in Sport: Normative Profiles and Applications for Collegiate Athletes.

ABSTRACT: Jagim, AR, Harty, PS, Jones, MT, Fields, JB, Magee, M, Smith-Ryan, AE, Luedke, J, and Kerksick, CM. Fat-free mass index in sport: normative profiles and applications for collegiate athletes. J Strength Cond Res XX(X): 000-000, 2024-Recent concerns have been raised regarding the ethical considerations of conducting body composition assessments in sports. Specific apprehensions pertain to the inappropriate use of percent body fat and the limited application of the results to performance and recovery. Fat-free mass index (FFMI), a height-adjusted assessment of FFM, can serve as an alternative body composition metric to focus on in sports. Fat-free mass index provides valuable context regarding an optimal amount of FFM, accounting for skeletal frame and height while helping to qualify an athlete's FFM as low, moderate, or high. This review posits that shifting the focus of body composition measures to FFM can support more ideal targets across athletic seasons, careers, and the return to play after injury. In addition, a FFM focus may help change the perception of body composition assessment and how athletes perceive their current body because of the increased focus on the FFM compartment and the goal of maximizing tissue accrual, rather than focusing on fat loss. Fat-free mass index is calculated by dividing FFM (kg) by height (m2) and can serve to normalize FFM, relative to height, and enable comparisons across athletes, sport types, and sex. Previous research has identified differences in FFMI across sex and among sport categories. Still, there is a need for more published data to develop optimal ranges for FFMI across sex, sports, and positions. As more data become available, FFMI has the potential to provide normative guidelines for optimal FFM development, performance, and injury risk reduction. The purpose of the current review was to summarize FFMI values across collegiate sport categories and competitive status to provide normative profiles, according to sex and sport type.

Fat-Free Mass Index in a Large Sample of Collegiate American Football Athletes.

High levels of fat-free mass (FFM) are favorable for athletes and are related to sport performance. However, fat-free mass index (FFMI), which includes adjustments for height, may offer a better way to characterize FFM beyond raw values. As FFMI is understudied relative to sport, the purpose of the current study was to assess position and age group differences in FFMI among collegiate American football players. National Collegiate Athletic Association DIII (n=111) football players underwent body composition assessment via bioelectrical impedance analysis. FFMI was calculated by dividing FFM by height squared. One-way analyses of variance with Bonferroni post-hoc tests were conducted to evaluate differences in FFMI by position and age groups (α<0.05). The overall mean FFMI was 23.50 ± 2.04 kg · m-2, with values ranging from 18.1-27.7 kg · m-2. FFMI was highest in linemen (24.8 ± 1.5 kg · m-2) and lowest in specialty players (20.6 ± 1.4 kg · m-2) (p<0.05). No differences in FFMI were apparent across age groups (p>0.05). Current findings demonstrate that an athlete's upper limit for FFMI may exceed 25 kg · m-2, and differences exist across positions, likely due to position-specific demands. These measurements serve as a foundation for tailoring nutritional and exercise plans, forecasting athletic performance, and supplying coaches with standardized data about the potential for additional FFM accretion in collegiate American football players.

Examining Changes in Shoulder Strength, Lower Body Power, and Body Composition among Collegiate Baseball Players after Completion of a Summer Baseball League Season.

The strength of the shoulder musculature involved with internal rotation and arm extension plays an important role in the overhead throwing motion for baseball athletes, both for throwing-related performance and injury risk. The maintenance of shoulder strength is a high priority for baseball athletes throughout a season; however, little is known in regards to the expected changes in strength throughout a season. To examine pre-post changes in shoulder strength, lower body power, and body composition among collegiate baseball players after the completion of a summer baseball league season. Amateur baseball players (n = 12; age: 20.9 ± 1.0 years.; height: 181.6 ± 5.6 cm; body mass: 86.4 ± 11.1 kg; BMI: 26.0 ± 2.6 kg/m2) participated in the current study. Pre- and post-competitive season, the participants completed shoulder strength assessments and body composition and countermovement vertical jump (CMJ) tests. An upper-body isometric test (athletic shoulder [ASH] test) was used to evaluate shoulder strength for each arm. Each subject completed maximal isometric contractions for both the throwing and non-throwing arms at four separate angles of abduction (180°, 'I'; 135°, 'Y'; 90°, 'T'; and -180°, 'A') while lying in a prone position. For shoulder strength, the primary dependent variable of interest was a composite measure that represented the average of the forces produced across all four positions of the ASH test (I, Y, T, A). For the ASH test composite measure, there was a trend toward a significant arm-by-time interaction effect (p = 0.08), as shoulder strength decreased by 9.03% for the throwing arm (ES = 0.72; 95% CI = [-0.27, -0.01]), compared to only 2.03% for the non-throwing arm (ES = 0.15; 95% CI = [-0.16, 0.09]), over the course of the season. The main effects of time (p = 0.16) and arm (p = 0.58) were not significant for the ASH test composite measure. There was no relationship between lower body power and throwing arm strength at baseline (r = 0.20, p = 0.56), and only a non-significant weak relationship at post-test (r = 0.28, p = 0.41). Throughout a season, baseball players may experience reductions in shoulder strength of the throwing arm with minimal changes in shoulder strength in the non-throwing arm.

Collegiate women's wrestling body fat percentage and minimum wrestling weight values: time for revisiting minimal body fat percent?

BACKGROUND: The estimation of body fat percentage (BF%) in wrestling is used to determine the minimum wrestling weight (MWW) and lowest allowable weight class (MWC) in which wrestlers are eligible to compete. A 12% minimum threshold is currently used for women wrestlers, yet a potential increase for safety has been discussed. Because of the novelty of collegiate women's wrestling, there is a paucity of literature available on the body composition norms of this population. The purpose of this study was to provide a descriptive summary of BF% and MWW values of female wrestlers and how MWW values would change with the use of different BF% thresholds. METHODS: Data from the 2022-2023 collegiate season were retrospectively analyzed resulting in a sample of 1,683 collegiate women wrestlers from the National Association of Intercollegiate Athletics (NAIA, n = 868) and the National Collegiate Athletics Association (NCAA, n = 815). All wrestlers completed skinfold assessments for weight certification at the start of the competition season. The skinfold values were used to estimate BF% using the Slaughter skinfold prediction equation. Frequency statistics and descriptive analysis were performed to compute normative MWW and BF% profiles. BF% thresholds of 12% (12MWW) and the BF% value defined as the lowest 5th percentile, which would be considered unusually lean, were used to determine the resulting MWW and MWC for each method. The lowest recorded weight and weight class division throughout the season was also recorded for each wrestler. RESULTS: There was a positively skewed (0.94) and platykurtic (1.86) distribution of MWW values. The median ± interquartile range BF% for all wrestlers was 27.4 ± 10.22%, with 17% BF representing the 5th percentile. Only 354 out of 1,579 (22.4%) wrestlers competed in their lowest allowable weight class, based on the 12MWW. Of these 354 wrestlers, the mean BF% was 21.3 ± 5.2% at weight certification with only n = 17 being at or below 12% body fat and an average weight loss of 11.1 ± 8.8 lbs. from the time of weight certification. Throughout the season, wrestlers competed at weights that were, on average (mean ± SD), 19.4 ± 16.9 lbs. higher than their 12MWW (95% CI: 18.6, 20.2 lbs. p < 0.001; effect size [ES] = 1.1), 13.4 ± 19.0 lbs. higher than the 17MWW (p < 0.001; ES = 0.70), and 8.7 ± 8.3 lbs. lower than their weight at the certification (95% CI: 8.3, 9.1 lbs. p < 0.001; ES = 1.1). CONCLUSIONS: Nearly all BF% values were well above the 12% threshold used to determine MWW. Increasing the minimum BF% threshold from 12% to 17% would affect a small percentage of wrestlers, likely reduce the need for excessive weight cutting, and minimize the deleterious health effects of an athlete at such a low BF%.