Table 2.

Results

Measure		Carriers (n=33)	Controls (n=13)	p value
Primary outcome measures
FXTAS Rating Scale, median (IQR)		7 (8)	3 (5)	0.005
Endocrinopathy		54%	33%	0.21
Secondary outcome measures
WASI, mean (sd)		110 (9.8)	114 (22.3)	0.35
Beck Anxiety Inventory, mean (sd)		7.8 (7.5)	3.6 (3.5)	0.01
CES-D, mean (sd)		10.4 (9.1)	6.4 (5.8)	0.15
Thyroid disease		38%	31%	0.67
Ovarian dysfunction		32%	16%	0.31
Pituitary/adrenal dysfunction		0	0	n/a
Exploratory outcome measures
Abnormal neurological exam		73%	23%	0.002
Tandem gait		30%	0	0.02
Tremor		39%	23%	0.49
Dystonia		24%	0	0.08
Total Neuropathy Score, median (IQR)		2 (3)	0 (1)	0.02
Behavioral Dyscontrol Scale, mean (sd)		25.4 (1.3)	25.8 (1)	0.23
Logical Memory Test – D, mean (sd)		10.6(2.5)	12 (1.9)	0.08
Digit Span, mean (sd)		9.9(2.3)	9.8(2.3)	0.9
Symbol Digit Modalities Test, mean (sd)		98.2(12.9)	107.4(6.9)	0.003
Controlled Oral Word Association, mean (sd)		99.1(20)	99.7(13.2)	0.92
Thyroid Antibodies*		28%	23%	1
Low 8am Cortisol Level (<10µg/dl)		43%	64%	0.26
Pre-Diabetes (HbA1c 5.7–6.4%)		20%	0%	0.15
Central sensitivity syndromes, mean (sd)		3.4(1.8)	1.7(1.7)	0.005
Sickness Impact Scale, median (IQR)		34.6 (85.1)	0 (14.6)	0.005
NEO Personality Scale Domains, mean (sd)
Neuroticism		92.2 (38)	72.4(18.3)	0.02
Extraversion		111.5 (25.8)	120.2 (20.7)	0.29
Openness to Experience		115.9 (15.4)	114.5 (14.9)	0.79
Agreeableness		127.9 (15.5)	129.3 (10.2)	0.77
Conscientiousness		123.7 (19.5)	121.1 (12)	0.65

Key: IQR, interquartile range; FXTAS, Fragile X-associated tremor/ataxia syndrome; WASI, Weschler Abbreviated Scale of Intelligence; CES-D, Center for Epidemiologic Studies Depression Scale; HbA1c, hemoglobin A1c;

^*Thyroid peroxidase and thyroglobulin antibodies