Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

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.

Autism‐related behaviors in the cyclooxygenase‐2‐deficient mouse model

“…For example, a recent study by Lawson et al found that females with ASD exhibited more social impairments compared with matched males. Females with Smith‐Magenis syndrome, a complex genetic neurodevelopmental syndrome with autism features, also display a greater number of abnormal social symptoms …”

“…Females with Smith-Magenis syndrome, a complex genetic neurodevelopmental syndrome with autism features, also display a greater number of abnormal social symptoms. 99 It is also important to note that in our study, upon weaning, animals were housed with litter mates of the same test group (genotype), which facilitates normal enriched social interaction. In contrast, previously published studies in other autism rodent models have shown that individually caged animals exhibit greater behavioral abnormalities compared with socially enriched animals caged with other animals.…”

Brain-enriched coding and long non-coding RNA genes are overrepresented in recurrent autism spectrum disorder CNVs

“…When we compared the ratios of cases to controls for males and females, we identified 2 regions that were at least 2-fold more likely in male cases and 13 regions that were at least 2-fold more likely in female cases ( Table 2 and Supplementary table S10 for more details). While further analyses will be needed to confirm our results, we note that one of the male-biased regions (chr16:15248707-16292499) and one of the female-biased regions (chr17:16789275-18299275) that we identify have been previously reported as gender biased (39, 40).…”

Understanding the Reasons, Contexts and Costs of Camouflaging for Autistic Adults

“…In a quantitative study, Cage et al ( 2018a ) found that participants who spontaneously reported camouflaging showed greater symptoms of depression and felt less accepted by others. Camouflaging has also been found to be a risk marker for suicidality in autistic adults (Cassidy et al 2018 ). These studies suggest the effort of camouflaging is costly for wellbeing and potentially has negative consequences for psychological constructions like identity.…”