Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1:A Cross-Syndrome Comparison

Objective: The etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in symptoms across individuals. This study compares ASD symptomatology between monogenetic syndromes with a high ASD prevalence, in order to reveal syndrome specific vulnerabilities and to clarify how genetic variations affect ASD symptom presentation. Methods: We assessed ASD symptom severity in children and young adults (aged 0-28 years) with Fragile X Syndrome (FXS, n = 60), Angelman Syndrome (AS, n = 91), Neurofibromatosis Type 1 (NF1, n = 279) and Tuberous Sclerosis Complex (TSC, n = 110), using the Autism Diagnostic Observation Schedule and Social Responsiveness Scale. Assessments were part of routine clinical care at the ENCORE expertise center in Rotterdam, the Netherlands. First, we compared the syndrome groups on the ASD classification prevalence and ASD severity scores. Then, we compared individuals in our syndrome groups with an ASD classification to a non-syndromic ASD group (nsASD, n = 335), on both ASD severity scores and ASD symptom profiles. Severity scores were compared using MANCOVAs with IQ and gender as covariates. Results: Overall, ASD severity scores were highest for the FXS group and lowest for the NF1 group. Compared to nsASD, individuals with an ASD classification in our syndrome groups showed less problems on the instruments' social domains. We found a relative strength in the AS group on the social cognition, communication and motivation domains and a relative challenge in creativity; a relative strength of the NF1 group on the restricted interests and repetitive behavior scale; and a relative challenge in the FXS and TSC groups on the restricted interests and repetitive behavior domain. Conclusion: The syndrome-specific strengths and challenges we found provide a frame of reference to evaluate an individual's symptoms relative to the larger syndromic population and to guide treatment decisions. Our findings support the need for personalized care and a dimensional, symptom-based diagnostic approach, in contrast to a dichotomous ASD diagnosis used as a prerequisite for access to healthcare services. Similarities in ASD symptom profiles between AS and FXS, and between NF1 and TSC may reflect similarities in their neurobiology. Deep phenotyping studies are required to link neurobiological markers to ASD symptomatology

Temperament and character in men with autism spectrum disorder: A reanalysis of scores on the Temperament and Character Inventory by individual case matching

Background: Interest in autism spectrum disorders (ASD) in adulthood is increasing. Although a person may be diagnosed with ASD, the diagnosis reveals little about the individual's temperament, character, and personality. Also, relatively little is known about the personality of adults with ASD. Method: A reanalysis of scores on the Temperament and Character Inventory (TCI) administered to a group of 66 normally intelligent men aged 18–63 years, diagnosed with ASD, by individual case matching to a comparison group of 66 men from the general population drawn from the TCI manual. Results: Compared to the comparison group, men with ASD scored significantly higher on the scale for Harm Avoidance, and lower on Novelty Seeking, Reward Dependence, Self-Directedness, and Cooperativeness. Conclusions: In this study the score pattern for temperament and character found in men with ASD by individual case matching confirms and strengthens earlier general group matching findings emerging from our 2012 study and from studies from Sweden and the Netherlands. Keywords: Autism spectrum disorder, Character, Personality, Personality disorder, Temperamen

Associations between autism traits and family functioning over time in autistic and non-autistic children

To explore associations between autism traits and family functioning over time, we studied longitudinal data of a mixed group of 168 clinically referred autistic and non-autistic children. Cross-lagged models showed a significant association between fewer autism traits at the diagnostic assessment and better family functioning 1 year later for the whole group, independently of children’s internalizing or externalizing behavior. When splitting the group into autistic children (58%) and non-autistic children (42%) based on an autism diagnosis, this association was only significant in the subgroup of non-autistic children with autism traits. We hypothesized that the needs of families experiencing difficulty understanding and adjusting to their children with autism traits, but no clinical autism diagnosis, might be unmet without the training or support facilities offered to families with autistic children. Although further research is needed to explore this association, clinicians may also consider supporting families of non-autistic children with autism traits to prevent family functioning problems. Because high autism trait levels in non-autistic children may be of a different origin than autism, for example, other neurodevelopmental or mental health problems, family training or support should be tailored to the child’s underlying difficulties

Children with Autism Spectrum Disorder in Times of COVID-19: Examining Emotional and Behavioral Problems, Parental Well-Being, and Resilience

This longitudinal study assessed the impact of the COVID-19 pandemic on children with autism spectrum disorder (ASD; n = 62; M age = 13 years) by measuring emotional and behavioral problems before and during the pandemic, and by comparing this change to a matched sample of children without ASD (n = 213; M age = 16 years). Moreover, we examined whether indicators of parental well-being promoted resilience of children with ASD. Results showed that the mean change in problems did not differ between children with and without ASD. Importantly, some children showed an increase in problems, while others showed resilience. Parental well-being indicators were not related to resilience among children with ASD. The interindividual variability in responses, particularly among children with ASD, highlights the need for personalized support