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Table 2 Summary of included studies (n = 40 unique studies, by themes and then by comparison groups)

From: Physical health of autistic girls and women: a scoping review

Author, country Study design Topic area Sample size Age (autism sample) % Female of autism sample % ID of autism sample Comparison groups Key findings
Theme 1: Overall Physical Health Status
a. Autistic girls/women compared to autistic boys/men
Rydzewska et al. [19]
UK
Cross-sectional registry sample Prevalence rates for co-occurring health conditions N = 25,063 autism, N = 1,523,756 general population controls 0 to 24 years 20.7% (19,880 males, 5183 females) 15.0% Autistic boys/men OR autistic girls/women compared to autistic boys/men (reference group): deafness 2.07 [95% CI 2.04–2.10], blindness 2.51 [2.12–2.97], physical disability 2.60 [2.50–2.71]
Rydzewska et al. [20]
UK
Cross-sectional registry sample Prevalence rates for co-occurring health conditions N = 6649 autism, N = 3,739,935 general population controls 25 + years 30.7% (4610 males, 2039 females) 29.4% Autistic men OR autistic women compared to autistic men (reference group): deafness 1.169 [95% CI 1.001–1.365], blindness 1.232 [1.051–1.443], physical disability 1.504 [1.333–1.697]
Rydzewska et al. [21]
UK
Cross-sectional registry sample Prevalence rates of general health status N = 6649 autism, N = 3,739,935 general population controls 25 + years 30.7% (4610 males, 2039 females) 29.4% Autistic men Among young adults (25–34 years), autistic women were more likely to have poorer general health compared to autistic men (43.9% autistic women vs. 35.7% autistic men reporting “poor general health”; χ2 = 13.2, df = 1, p < 0.001). No significant sex/gender differences in other age bands
Supekar et al. [22]
USA
Cross-sectional registry sample Prevalence rates for co-occurring health conditions N = 4790 autism, N = 1,842,575 general population controls All ages Not reported for overall sample Not reported Autistic boys/men Bowel disorders were overall more prevalent in autistic men, but there was a significant higher prevalence in autistic women > 35 years (23% autistic women vs. 10% autistic men, p < 0.05)
Davignon et al. [23]
USA
Cross-sectional registry sample Prevalence rates for co-occurring health conditions N = 4123 autism, N = 20,615 ADHD, N = 2156 diabetes mellitus, N = 20,615 general population controls 14 to 25 years 19.3% (3326 males, 797 females) 13% Autistic boys/men Rates of various health conditions mostly greater in autistic girls/women compared to autistic boys/men with the largest differences observed for allergy/immunologic conditions, infections, musculoskeletal conditions, neurologic conditions, and psychiatric conditions
Jones et al. [24]
USA
Cross-sectional clinic/community sample Prevalence rates for co-occurring health conditions N = 92 autism, no controls 23.5 to 50.5 years 25% (69 males, 23 females) N = 82 with data, 70% with ID Autistic men Autistic women had a median of 16 comorbid medical conditions, whereas autistic men had a median of 10 comorbid medical conditions, p = 0.01
Mason et al. [25]
UK
Cross-sectional registry sample Physical quality of life N = 370 autism, no controls 17 to 80 years 42.7% (199 males, 158 females, 13 not reported) Not reported Autistic boys/men Autistic women reported poorer physical quality of life (mean = 45.98, SD = 19.57) than autistic men (mean = 52.98, SD = 17.32)
Fortuna et al. [26]
USA
Cross-sectional registry sample Overall health status N = 255 autism, no controls 18 to 71 years 24.7% (192 males, 63 females) N = 141 with data, 91% with ID Autistic boys/men Female sex/gender was associated with lower odds of good or excellent overall health: OR autistic women compared to autistic men (reference group) 0.5 [95% CI 0.2–1.0]
Cashin et al. [27]
Australia
Review with systematic search methods Physical health status n = 6 studies, with samples ranging from N = 92 to N = 2075 autism 18 + years Not reported Not reported Autistic boys/men 3 studies included sex-specific analyses, with inconsistent findings
Rubenstein et al. [28]
USA
Review with systematic search methods Sex differences in co-occurring conditions n = 69 studies, with samples ranging from N = 28 to N = 337,000 Not reported Not reported Not reported Autistic boys/men Insufficient research (hence evidence) to draw conclusions on sex differences in most co-occurring health conditions
b. Autistic girls/women compared to non-autistic girls/women
Cawthorpe et al. [29]
Canada
Cross-sectional registry sample Prevalence rates for co-occurring health conditions N = 2040 autism, N = 761,409 general population controls All ages 28.6% (1457 males, 583 females) Not reported Same-sex general population controls Autistic girls/women had increased odds compared to non-autistic girls/women for most physical health conditions (encompassing almost all body systems), similar to that in autistic boys/men compared to non-autistic boys/men. Sex differential patterns were also found. (i) Conditions only elevated in autistic girls/women included: blood and blood-forming organ disorders (autistic female OR 1.35 [95% CI 1.11–1.65], autistic male 1.14 [0.96–1.35]), and endocrine, nutritional, metabolic diseases, and immunity disorders (autistic female 1.47 [1.25–1.73], autistic male 0.63 [0.56–0.71]). (ii) Conditions only elevated in autistic boys/men included: complications during mothers’ pregnancy/childbirth (autistic male 1.52 [1.07–2.15], autistic female 0.55 [0.44–0.68]), and genitourinary system diseases (autistic male 1.2 [1.08–1.33], autistic female 0.99 [0.81–1.20])
Croen et al. [30]
USA
Cross-sectional registry sample Prevalence rates for co-occurring health conditions N = 1507 autism, N = 15,070 general population matched controls Adults (mean age 29.0 years, SD 12.2) 26.9% (1102 males, 405 females) 19.2% Same-sex general population controls Autistic women had increased odds compared to non-autistic women for most physical health conditions (encompassing almost all body systems), similar to that in autistic men compared to non-autistic men. Sex differential patterns were also found. (i) Conditions only elevated in autistic women included: stroke (autistic female OR 4.97 [99% CI 1.46–16.86], autistic male 1.48 [0.59–3.70]). (ii) Conditions only elevated in autistic men included: autoimmune diseases (autistic male 1.30 [1.01–1.68)], autistic female 1.12 [0.78–1.60]) and gastrointestinal disorders (autistic male 1.50 [1.25–1.79], autistic female 1.05 [0.80–1.39])
Hand et al. [31]
USA
Cross-sectional registry sample Prevalence rates for co-occurring health conditions N = 4685 autism, N = 46,850 matched controls 65 years and older 32.2% (3175 males, 1510 females) 43.8% Same-sex general population controls Autistic women had increased odds compared to non-autistic women for most physical health conditions (encompassing almost all body systems), similar to that in autistic men compared to non-autistic men. No sex differential patterns were found. The three physical health conditions with the largest ORs in autistic women were epilepsy (OR 20.8 [95% CI 17.7–24.4]), Parkinson’s disease (8.2 [6.2–10.7]), and other gastrointestinal conditions (4.6 [4.1–5.1])
Theme 2: Epilepsy and Related Neurological Conditions
a. Autistic girls/women compared to autistic boys/men
Stacy et al. [32]
USA
Cross-sectional registry sample Prevalence rates: including epilepsy N = 913 autism Weighted mean age 9.91 years (females 10.82 (SD 0.61) vs. males 9.71 (SD 0.27)) 18.3% (746 males, 167 females) Not reported Autistic boys/men No significant differences between autistic girls/women and autistic boys/men
Amiet et al. [33]
France
Systematic review and meta-analysis Prevalence rates: pooled risk ratio for epilepsy, and associations with ID N = 1530 autism in sex/gender analyses from 14 studies All ages 22.2% in sex/gender analyses (1191 males, 339 females) Not reported Autistic boys/men Lower risk for epilepsy in autistic boys/men compared to autistic girls/women (RR 0.55 [95% CI 0.45–0.66], p < 0.001; 34.5% in autistic girls/women vs. 18.5% in autistic boys/men)
Ewen et al. [34]
USA
Cross-sectional registry sample Prevalence rates: epilepsy N = 6975 autism 6 to 18 years 18.7% (5671 males, 1304 females) 20.8% Autistic boys Higher risk for epilepsy in autistic girls compared to autistic boys in a larger sub-cohort (RR 1.32 [95% CI 1.14–1.52], p < 0.05) but no significant findings in a smaller sub-cohort. Independent positive associations between epilepsy and intellectual disability, language impairment, core autism symptom, and motor dysfunction
Viscidi et al. [35]
USA
Cross-sectional registry sample Prevalence rates: epilepsy N = 5815 autism All ages, majority between 4 and 12 years (~ 75%) 17.5% (4800 males, 1015 females) N = 4894 with data, 15.5% Autistic boys/men Epilepsy was more prevalent in autistic girls/women (7.0%) than in autistic boys/men (3.9%, p < 0.001). Co-occurring epilepsy in autism was associated with older age, lower cognitive ability, poor adaptive language functioning, developmental regression, and more severe autism symptoms; most of the associations were driven by IQ
Bowers et al. [36]
USA
Cross-sectional clinic/community sample Prevalence rates: epilepsy, in preterm vs. term births N = 883 autism 0 to 18 years 17.6% (728 males, 155 females) N = 853 with data, 34.5% Autistic boys Seizure disorders were more frequent among autistic boys born preterm vs. those born term (17.0% vs. 8.5%, p = 0.01); no such preterm–term differences were found in autistic girls
Ben-Itzchak et al. [37]
Israel
Cross-sectional clinic/community sample Prevalence rates and sex differences in neurological phenotypes, including epilepsy N = 663 autism 1 to 15 years 13.0% (577 males, 86 females) 35.0%** Autistic boys Neurological anomalies were more prevalent in autistic girls than in autistic boys, including microcephaly (15.1% vs. 4.5%, χ2 = 15.0, df = 1, p < 0.001) and minor neurological–musculoskeletal deficits (73.8% vs. 57.1%, χ2 = 8.0, df = 1, p < 0.001), but no significant sex differences were found for seizures or macrocephaly
*Supekar et al. [22]
USA
Cross-sectional registry sample Prevalence rates for co-occurring health conditions, including epilepsy N = 4790 autism, N = 1,842,575 general population controls All ages Not reported for overall sample Not reported Autistic boys/men Overall higher prevalence of epilepsy in autistic girls/women (18.54%) than in autistic boys/men (15.14%, p < 0.05); this finding was modulated by age, that epilepsy was female-predominant in 0–18 years and 18–35 years, but male-predominant in > 35 years of age
b. Autistic girls/women compared to non-autistic girls/women
Ingudomnukul et al. [38]
UK
Cross-sectional clinic/community sample Prevalence rates for co-occurring health conditions, including epilepsy N = 54 autism, N = 74 mothers of autistic children, and N = 183 mothers of typically developing children (controls) 19 to 63 years 100% Not reported Same-sex general population controls Epilepsy rates were higher in autistic women (7.4%) compared to control women (1.1%, p < 0.05)
Pohl et al. [39]
UK
Cross-sectional clinic/community sample Prevalence rates for co-occurring health conditions, including epilepsy N = 415 autism, N = 415 age-matched controls Mean age 36.39 years (SD 11.98) 100% Not reported Same-sex general population controls Epilepsy rates were higher in autistic women (4.1%) compared to non-autistic women (1.4%, p = 0.016)
*Croen et al. [30]
USA
Cross-sectional registry sample Prevalence rates for co-occurring health conditions, including epilepsy N = 1507 autism, N = 15,070 general population matched controls Adults (mean age 29.0 years, SD 12.2) 26.9% (1102 males, 405 females) 19.2% Same-sex general population controls Autistic women had increased odds compared to non-autistic women for epilepsy and recurrent seizures (OR 34.09 [99% CI 18.51–62.79]); a similar but smaller effect was found in autistic men compared to non-autistic men (11.53 [7.74–17.17])
*Hand et al. [31]
USA
Cross-sectional registry sample Prevalence rates for co-occurring health conditions, including epilepsy N = 4685 autism, N = 46,850 matched controls 65 years and older 32.2% (3175 males, 1510 females) 43.8% Same-sex general population controls Autistic women had increased odds compared to non-autistic women for epilepsy (OR 20.8 [95% CI 17.7–24.4]) and Parkinson’s disease (8.2 [6.2–10.7]); a similar but smaller effect was found in autistic men compared to non-autistic men for epilepsy (18.0 [16.1–20.2])
Theme 3: Endocrine and Reproductive Health Conditions
a. Studies with no comparison group
Hamilton et al. [40]
USA
Cross-sectional clinic/community sample Prevalence rates for menstruation complications N = 124 autism 10 to 25 years 100% Not reported None Autistic girls/women commonly experienced dysmenorrhea (91%), premenstrual syndrome (96%), and 33% endorsed autism-associated difficulties during the menstrual cycle (increased irritability/aggression before menses, worsening of autistic behaviors, and increased repetitive movements and obsessive behaviors)
Bitsika and Sharpley [41]
Australia
Cross-sectional clinic/community sample Effects of menarche on sensory features of autism N = 53 autism 6 to 17 years 100% Not reported None Autistic girls who had reached menarche had lower sensation seeking (less sensory interests) (F(25,27) = 2.113, p = 0.030) and multisensory processing (F(7,45) = 3.187, p = 0.008) compared to those who had not yet reached menarche
b. Autistic girls/women compared to non-autistic girls/women
*Croen et al. [30]
USA
Cross-sectional registry sample Prevalence rates for co-occurring health conditions, including endocrine disorders N = 1507 autism, N = 15,070 general population matched controls Adults (mean age 29.0 years, SD 12.2) 26.9% (1102 males, 405 females) 19.2% Same-sex general population controls Autistic women had increased odds compared to non-autistic women for thyroid diseases (OR 1.85 [99% CI 1.20–2.85]); a similar but larger effect was found in autistic men compared to non-autistic men (3.34 [2.18–5.11])
*Hand et al. [31]
USA
Cross-sectional registry sample Prevalence rates for co-occurring health conditions, including endocrine and menopausal disorders N = 4685 autism, N = 46,850 matched controls 65 years and older 32.2% (3175 males, 1510 females) 43.8% Same-sex general population controls Autistic women had increased odds compared to non-autistic women for thyroid disorders (OR 2.5 [95% CI 2.2–2.8]); a similar but larger effect was found in autistic men compared to non-autistic men (3.7 [3.3–4.0]). Autistic women did not differ from non-autistic women on rates of menopausal disorders (1.1 [0.9–1.5])
Steward et al. [42]
UK
Cross-sectional clinic/community sample Autistic women’s experiences with menstruation N = 123 autism, N = 114 controls 16 to 60 + years 100% Not reported Same-sex general population controls Autistic women highlighted autism-specific issues during the menstrual cycle, including a cyclical amplification of autism-related challenges, sensory differences, and emotional regulation challenges, which had a significant negative impact on their lives
*Ingudomnukul et al. [38]
UK
Cross-sectional clinic/community sample Prevalence rates for co-occurring health conditions, including female-specific endocrine conditions N = 54 autism, N = 74 mothers of autistic children, and N = 183 mothers of typically developing children (controls) 19 to 63 years 100% Not reported Same-sex general population controls Autistic women, compared to control women, had higher rates of polycystic ovary syndrome (PCOS, 11.3% vs. 2.7%, p < 0.05), delayed puberty (7.4% vs. 0.5%, p < 0.01), hirsutism (29.6% vs. 4.4%, p < 0.001), irregular menstrual cycle (57.4% vs. 28.6%, p < 0.001), unusually painful periods (44.4% vs. 28.0%, p < 0.05), and history of severe acne (27.8% vs. 7.1%, p < 0.001)
*Pohl et al. [39]
UK
Cross-sectional clinic/community sample Prevalence rates for co-occurring health conditions, including female-specific endocrine conditions N = 415 autism, N = 415 age-matched controls Mean age 36.39 years (SD 11.98) 100% Not reported Same-sex general population controls Autistic women, compared to non-autistic women, had higher rates of irregular menstrual cycle (46.3% vs. 34.0%, p = 0.0002), unusually painful periods (39.3% vs. 26.3%, p = 0.00004), premenstrual syndrome in contraceptive pill users (24.0% vs. 13.8%, p = 0.001), severe acne in non-contraceptive pill users (21.3% vs. 5.9%, p = 0.002), precocious puberty (3.1% vs. 0.5%, p = 0.003), and early growth spurt (20.2% vs. 12.8%, p = 0.002)
Cherskov et al. [43]
UK
Cross-sectional registry sample Prevalence rates for polycystic ovary syndrome (PCOS) N = 971 autism, N = 4855 general population controls Mean age 30.3 years (SD 9.1) 100% Not reported Same-sex general population controls Prevalence of PCOS was higher in autistic women compared to non-autistic women (by Read code, 2.3% vs. 1.1%, p < 0.01, OR 2.01 [95% CI 1.22–3.30]; by NIH criteria, 7.4% vs. 3.1%, p < 0.001, 2.50 [1.87–3.35]; by Rotterdam criteria, 7.8% vs. 3.5%, p < 0.001, 2.33 [1.76–3.08])
Chiang et al. [44]
Taiwan
Cross-sectional registry sample Prevalence rates for cancer, including ovarian cancer N = 8438 autism, N = 76,332 general population controls 0 to 25 + years 17.9% (6931 males, 1507 females) Not reported Same-sex general population controls Autistic girls/women had a higher standardized incidence ratio (SIR) for ovarian cancer compared to non-autistic girls/women (SIR 9.21 [95% CI 1.12–33.29])
Sundelin et al. [45]
Sweden
Cross-sectional registry sample Pregnancy outcomes N = 1382 autism (N = 2198 births), N = 503,846 general population controls (N = 877,742 births) Adults of child-bearing age 100% Not reported Same-sex general population controls Autistic women, compared to non-autistic women, were at increased risks for preeclampsia (OR 1.34 [95% CI 1.08–1.66]), giving preterm birth (1.30 [1.10–1.54]), medically indicated preterm birth (1.41 [1.08–1.82]), and receiving elective cesarean delivery (1.44 [1.25–1.66])
Miscellaneous Emerging Findings (all studies offered information regarding autistic girls/women in comparison with autistic boys/men)
a. Additional neurological conditions
Memari et al. [46]
Iran
Cross-sectional clinic/community sample Prevalence rates for co-occurring health conditions N = 91 autism 6 to 14 years 25.3% (68 males, 23 females) Not reported Autistic boys Autistic girls had higher prevalence of neurological conditions (~ 46%) than autistic boys (~ 19%, p = 0.02)
Rubenstein et al. [47]
USA
Cross-sectional registry sample Temporal trends in co-occurring health conditions N = 6379 autism 8-year-olds 18.0% (5230 males, 1149 females) 4.3% Autistic boys Rates of change of prevalence for neurological conditions over 2002–2010 were the same for autistic boys and autistic girls
Mouridsen et al. [48]
Denmark
Cross-sectional registry sample Prevalence rates for cerebral palsy N = 4180 autism (ICD-10 Asperger’s syndrome) 4 to 31 years 17.9% (3431 males, 749 females) 0% Autistic boys/men Increased rates for cerebral palsy in autistic people (0.65%) than in the general population (0.17%), but no difference between autistic girls/women (0.80%) and autistic boys/men (0.61%, p = 0.56)
b. Obesity and overweight
Broder-Fingert et al. [49]
USA
Cross-sectional registry sample Prevalence rates for obesity and overweight N = 2976 autism, N = 3696 general population controls 2 to 20 years 20.7% (2359 males, 617 females) Not reported Autistic boys/men Autistic girls/women were less likely to be obese compared to autistic boys/men (OR 0.71 [95% CI 0.55–0.93]), but this did not hold for overweight (1.06 [0.81–1.39])
Garcia-Pastor et al. [50]
USA
Cross-sectional clinic/community sample Prevalence rates for obesity and overweight N = 78 autism 7 to 48 years 28.2% (56 males, 22 females) Not reported Autistic boys/men Overweight and obesity were more prevalent in autistic men than in autistic women (p = 0.035); no differences were found between autistic girls and autistic boys
c. Gastrointestinal, metabolic, or nutritional problems
Yang et al. [51]
China
Cross-sectional clinic/community sample Gastrointestinal symptoms N = 169 autism, N = 172 controls 3 to 12 years 14.2% (145 males, 24 females) Not reported Autistic boys Autistic girls had greater likelihood of gastrointestinal problems than autistic boys (OR 3.88 [95% CI 1.33–11.35], p = 0.013); more gastrointestinal symptoms were correlated with more severe core autistic symptoms
Tseng et al. [52]
Taiwan
Systematic review and meta-analysis Iron deficiency n = 25 studies, with N = 1603 autism (across 3 analyses), N = 1507 controls 0 to 18 years 20.0% (no individual numbers) Not reported Autistic boys No sex/gender differences in iron levels in autistic children
Rossignol and Frye [53]
USA
Systematic review and meta-analysis Mitochondrial disease (MD) n = 65 studies, with N = 648 autism (among these N = 112 also with mitochondrial disease) 0 to 20 years 39% in autism plus MD, 19% in autism only (no individual numbers) Not reported Autistic boys/men Autism–mitochondrial disease group had higher proportion of autistic girls/women (39%) than the autism-only group (19%, χ2 = 18.7, p < 0.0001); autistic boys/men are the majority in both groups
Guo et al. [54]
China
Cross-sectional clinic/community sample Vitamin A and vitamin D deficiencies N = 332 autism, N = 197 controls Mean age 4.87 years (SD 1.53) 13.9% (286 males, 46 females) Not reported Autistic boys Autistic girls had lower serum 25-OH vitamin D than autistic boys (p < 0.05)
d. Immune profile
Masi et al. [55]
Australia
Cross-sectional clinic/community sample Cytokines N = 144 autism 2 to 18 years 21.5% (113 males, 31 females) Not reported Autistic boys In autistic girls, reduced levels of IL-1β, IL-8, MIP-1β, PDGF-BB and VEGF were associated with increased autism symptoms, while in autistic boys this was the case only for reduced PDGF-BB. Cytokine expression was moderated by sex/gender
Hu et al. [56]
China
Cross-sectional registry sample Cytokines N = 87 autism, N = 41 controls 1 to 6 years 17.2% (72 males, 15 females) Not reported Autistic boys Overall, autistic children had higher plasma levels of eotaxin, TGF-β1, and TNF-α than non-autistic children. In autistic girls, only the increase in eotaxin was statistically significant, whereas in autistic boys, the most consistent increase was in TGF-β1. Possible differential immune profiles in autistic girls vs. boys
Saghazadeh et al. [57]
Iran
Systematic review and meta-analysis Cytokines n = 38 studies, with N = 1393 autism, N = 1094 controls All ages 36 studies with sex/gender info; 1582 males and 446 females in total sample; % of autistic females not reported Not reported Autistic boys/men Overall, autistic individuals had higher concentrations of pro-inflammatory cytokines IFN-γ, IL-1β, IL-6, and TNF-α than controls; meta-regression revealed moderation effects of sex/gender (difference in the percentage of males between autism and control groups) for IL-1β and TNF-α
e. Autism symptoms associated with physical health
Moseley et al. [58]
UK
Systematic review and meta-analysis Sex differences in autistic symptoms N = 254 autism, N = 273 controls Weighted mean age 36.4 years (females 37.5 (SD 14), males 35.3 (SD 13.4)) 53.5% (118 males, 136 females) 0% Autistic boys/men Autistic girls/women had more profound sensorimotor symptoms than autistic boys/men (t(252) = 4.346, p < 0.001)
  1. * Same study listed again but under different themes
  2. ** Calculated using mean and standard deviations from IQ scores, for males and females
  3. CI confidence interval, OR odds ratio, RR risk ratio, SD standard deviation, SIR standardized incidence ratio