1. A HG, J WG, C MK, M DL, J CM. Social Anhedonia Accounts for Greater Variance in Internalizing Symptoms than Autism Symptoms in Autistic and Non-Autistic Youth. J Autism Dev Disord;2024 (Feb 10)

PURPOSE: Social anhedonia is a transdiagnostic trait that reflects reduced pleasure from social interaction. It has historically been associated with autism, however, very few studies have directly examined behavioral symptoms of social anhedonia in autistic youth. We investigated rates of social anhedonia in autistic compared to non-autistic youth and the relative contributions of autism and social anhedonia symptoms to co-occurring mental health. METHODS: Participants were 290 youth (M(age)=13.75, N(autistic)=155) ranging in age from 8 to 18. Youth completed a cognitive assessment and a diagnostic interview. Their caregiver completed questionnaires regarding symptoms of autism and co-occurring psychiatric conditions. RESULTS: Autistic youth were more likely to meet criteria for social anhedonia than non-autistic youth. There was a significant positive relationship between age and social anhedonia symptom severity, but there was no association between sex and social anhedonia. Dominance analysis revealed that social anhedonia symptom severity had the strongest association with symptoms of depression and social anxiety, while symptoms of ADHD, generalized anxiety, and separation anxiety were most strongly associated with autism symptom severity. CONCLUSION: This was the first study to tease out the relative importance of social anhedonia and autism symptoms in understanding psychiatric symptoms in autistic youth. Findings revealed higher rates of social anhedonia in autistic youth. Our results indicate that social anhedonia is an important transdiagnostic trait that plays a unique role in understanding co-occurring depression and social anxiety in autistic youth. Future research should utilize longitudinal data to test the transactional relationships between social anhedonia and internalizing symptoms over time.

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2. Bentum JV, Sijbrandij M, Huibers M, Begeer S. Occurrence and predictors of lifetime suicidality and suicidal ideation in autistic adults. Autism;2024 (Feb 10):13623613231225901.

Over the past few years, more and more research is showing that many autistic people are at an increased risk for suicide. In this study, we asked participants from the Netherlands Autism Register, which is longitudinal register including individuals with autism, about their possible experiences with thoughts and feelings about suicide. Specifically, we looked at whether these thoughts and feelings in their lifetime and in the past month were related to various factors (such as their age, gender, and having psychiatric disorder diagnoses). We found that 80% of the participants had experienced thoughts about or even attempted to take their own life at least once throughout their lifetime. Furthermore, in a subgroup of participants, we found that the presence of a psychiatric disorder diagnosis, feelings of loneliness, and a higher number of autistic traits were associated with experiencing suicidal thoughts and feelings in their lifetime. For those who experienced these suicidal thoughts in the past month, we found that having (multiple) psychiatric disorder diagnoses and a higher number of autistic traits were related to more severe and frequent thoughts about suicide in the past month. Our findings show that additional factors in autistic individuals should be considered when assessing the suicide risk, and it brings us one step closer to understanding why suicide is more common for autistic people.

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3. Cook ML, Tomaszewski B, Lamarche E, Bowman K, Klein CB, Stahl S, Klinger LG. Suicide risk in transition-aged autistic youth: The link among executive function, depression, and autistic traits. Autism;2024 (Feb 10):13623613241227983.

Autistic people are more likely to consider suicide than non-autistic people, with transition-aged youth (ages 16-21 years) at potentially the highest risk. Research has also shown that difficulties with executive functioning (e.g., difficulties with organization, sequencing, and decision-making) may heighten suicide risk among non-autistic people, but it is not clear whether this is also true for autistic people. This study explored this question by asking 183 transition-aged autistic youth about their experience with suicidal behavior and examining the relationship between their responses and additional measures of depression, autistic traits, and executive function skills. About one-third of autistic transition-aged youth (33.3%) said that they had experienced thoughts of hurting themselves with the intent to end their lives (i.e., suicidal ideation). Both depression and executive function challenges predicted suicide risk (i.e., participants who experienced depression were more likely to have had suicidal thoughts than those who had not, and participants who had more difficulty with executive function skills were more likely to have had suicidal thoughts than those who had less difficulty). These findings suggest that executive functioning, a common area of difficulty among autistic people, is an important indicator of suicide risk in this population.

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4. da Silva RV, Gomes DL. Eating Behavior and Nutritional Profile of Children with Autism Spectrum Disorder in a Reference Center in the Amazon. Nutrients;2024 (Feb 4);16(3)

There is no single pattern for the evolution of the nutritional status of children with autism spectrum disorder (ASD). Previous studies have found a tendency towards food selectivity with food monotony and difficulties with food texture in children with ASD, but studies in this area, especially in Brazil, are still scarce. The nutritional profile and changes in eating behavior were analyzed in patients with autism spectrum disorder assisted at a reference center in Belém. Eating behavior was assessed using the Labyrinth Scale, nutritional status assessment through weight and height (to calculate body mass index-BMI), and consumption food through the 24 h reminder. A total of 80 children of both sexes participated in the study, the majority of whom were male (80%), 47.5% eutrophic, while for the food consumption of the children evaluated, there was an average energy consumption of 1911 kcal daily, with 57.3%, 15.4%, and 27.3% of carbohydrates, proteins, and lipids, respectively. In relation to eating behavior, the highest averages were demonstrated in the domains of food selectivity, behavioral aspects, and mealtime skills. Masticatory motor scores showed a positive correlation with weight, BMI, and the amount of energy consumed by the child. The gastrointestinal symptoms score showed a negative correlation with the child’s age. Regarding mealtime skills, a negative correlation was observed with the proportion of carbohydrates in the diet and a positive correlation with the proportion of lipids consumed in the children’s diet. Therefore, knowing the main changes in eating behavior is important to ensure a complete and safe approach for each patient.

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5. Han E, Scior K, Grace K, Heath E, Dufresne S, Crane L. ‘Who, When, How to Share’: Pilot study of a new disclosure decision-making programme for autistic adults. Autism;2024 (Feb 10):13623613231221685.

‘Who, When, How to Share’ is a new programme that aims to support autistic adults in making decisions around sharing their autistic identity with others. The programme involves working through a self-help guide independently over 3 weeks with optional peer support. We wanted to find out if autistic adults would join the programme and find it useful. Thirty-two autistic adults took part in the programme and 19 of them completed it. Most participants who completed the programme liked the programme and found it helpful, but some felt that they needed more time and support to complete it. They suggested that the programme would be more accessible if it was more interactive, such as including videos and other ways to gain feedback on their progress. Surveys filled in by participants before and after the programme suggested that they became more confident and less stressed about sharing their autistic identity with others, but some felt they still needed to build more confidence in order to handle negative attitudes from others. More work is needed to improve and test the programme further.

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6. Quatrosi G, Genovese D, Galliano G, Zoppé H, Amodio E, Bonnet-Brilhault F, Tripi G. Cranio-Facial Characteristics in Autism Spectrum Disorder: A Scoping Review. J Clin Med;2024 (Jan 26);13(3)

Autism spectrum disorders (ASD) consist of a complex group of neurodevelopmental disorders characterised by qualitative impairments of social interactions, communication abilities, and a limited, stereotyped, and repetitive selection of interests and activities. In light of the imperative to identify a possible biomarker for ASD, it has been determined that craniofacial anomalies serve as significant risk factors for neurodevelopmental disorders. The aim of this scoping review is to deepen the knowledge of the scientific literature related to cranio-facial characteristics in individuals with ASD, with a particular focus on recent research advancements. The review was performed by employing the search strings ((« Autism Spectrum Disorder » OR autism OR ASD OR « Autism Spectrum ») AND (« facial morphology » OR « facial phenotype »)) on the databases PubMed/MEDLINE, Scopus, and ERIC as of March 9, 2023. The review comprised seven studies whose findings were obtained through quantitative analysis of Euclidean distances between anatomical landmarks. The examination of facial abnormalities represents a possible reliable diagnostic biomarker that could aid in the timely identification of ASD. Phenotypic characteristics that may serve as predictive indicators of the severity of autistic symptoms can be observed in certain individuals with ASD by applying anthropometric and instrumental measurements. The presence of a phenotype characterised by an increased intercanthal distance and a reduced facial midline height appears to be associated with a higher degree of severity in autistic symptoms. In addition, it is worth noting that facial asymmetry and facial masculinity can be considered reliable indicators for predicting a more severe manifestation of symptoms.

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7. Yan L, Tian L, Zhang Y, Liu Y, Cao J, Li D, Zou J, Li H. [Analysis of clinical features and genetic variant in a child with Cowden syndrome 1]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2024 (Feb 10);41(2):230-233.

OBJECTIVE: To explore the genetic etiology of a child with Cowden syndrome 1 (CS1). METHODS: A child who had visited the Ningbo Women and Children’s Hospital on August 26, 2022 was selected as the study subject. Clinical information of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his family members and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RESULTS: The child, a 13-year-old boy, had manifested with severe mental retardation, hyperactivity, autistic behavior, sparse and prominent teeth, macrocephaly, and skin freckles on the penis. His mother had presented with multiple papules, hamartomatous polyps, thyroid adenoma and macrocephaly. WES results revealed that the child has harbored a nonsense c.781C>T (p.Q261*) variant of the PTEN gene, which was inherited from his mother. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.781C>T variant was classified as likely pathogenic (PVS1+PM2_Supporting). CONCLUSION: The c.781C>T variant of the PTEN gene probably underlay the pathogenesis in the child and his mother. Above finding has facilitated genetic counseling for this family.

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