Abstract
BackgroundA substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population.Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11.2 or a mutation on the retinoic acid induced 1 gene. The disorder is characterised by intellectual disability, multiple congenital anomalies, obesity, neurobehavioural abnormalities and a disrupted circadian sleep-wake pattern.MethodsParents of 28 persons with SMS between 5 and 50 years old participated in this study. A total of 12 of the persons with SMS were above the age of 18 at the time of the study. A total of 11 came from Sweden and 17 were from Norway.We collected information regarding the number of autism spectrum symptoms using the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS). Adaptive behaviour was also measured using the Vineland Adaptive Behavior Scale II. The level of intellectual disability was derived from a review of the medical chart.ResultsWe found significant gender differences in ASD symptomatology using the SCQ and SRS questionnaires. We found approximately three females per male above the SCQ cutoff. The same differences were not found in the intellectual level and adaptive behaviour or for behavioural and emotional problems.Gender had an independent contribution in a regression model predicting the total SCQ score, and neither the Vineland Adaptive Behavior Scale II nor the Developmental Behaviour Checklist had an independent contribution to the SCQ scores.ConclusionWe found a clear reversed gender difference in ASD symptomatology in persons with SMS. This may be relevant in the search for female protective factors assumed to explain the male bias in ASD.
Highlights
A substantial amount of research shows a higher rate of autistic type of problems in males compared to females
The Developmental Behaviour Checklist (DBC) did not have the same gender differences that we observed in the Social Responsiveness Scale (SRS) and Social Communication Questionnaire (SCQ), except from the subscale Social Relating, where we found a strong tendency for more problems among the females (Cohen’s d 0.85)
The clinical diagnoses of intellectual disability differ between the genders, and we found a tendency for poorer development in females (VABS II total 53) than males (VABS II total 62), but this difference was not significant
Summary
A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD). The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD) research [1,2,3], and a gender difference has been a part of the description of ASD since the first characterisation of the disorders. ASD occurs in conditions with X-linked recessive inheritance, but because of the rarity of these disorders, Gender ratios in ASD differ substantially from study to study. According to Loomes et al [8], the main reasons for this change were both how ASD was diagnosed and what population were used to investigate the male to female ratio in ASD in different studies. Epidemiological studies describe the degree of intellectual disability and the ascertainment approach as major explanations behind the varying ratios that were reported [9]
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