Early Prediction of Autistic Spectrum Disorder Using Developmental Surveillance Data

Amit G, Bilu Y, Sudry T, et al., JAMA Network. January 2024

Importance  With the continuous increase in the prevalence of autistic spectrum disorder (ASD), effective early screening is crucial for initiating timely interventions and improving outcomes.

Objective  To develop predictive models for ASD using routinely collected developmental surveillance data and to assess their performance in predicting ASD at different ages and in different clinical scenarios.

From Symptomatology to Functioning - Applying the ICF to Autism Measures to Facilitate Neurodiversity-Affirmative Data Harmonization

Black, M.H., Remnélius, K.L., Alehagen, L. et al., Journal of Autism and Developmental Disorders. December 2023

Purpose. A considerable number of screening and diagnostic tools for autism exist, but variability in these measures presents challenges to data harmonization and the comparability and generalizability of findings. At the same time, there is a movement away from autism symptomatology to stances that capture heterogeneity and appreciate diversity. The International Classification of Functioning, Disability and Health (ICF) provides a classification system that can support content harmonization of different screening and diagnostic tools for autism while enabling the translation of diagnostic information into functioning.

The neuroanatomical substrates of autism and ADHD and their link to putative genomic underpinnings

Berg, L.M., Gurr, C., Leyhausen, J. et al., Molecular Autism. October 2023

Background. Autism spectrum disorders (ASD) are neurodevelopmental conditions accompanied by differences in brain development. Neuroanatomical differences in autism are variable across individuals and likely underpin distinct clinical phenotypes. To parse heterogeneity, it is essential to establish how the neurobiology of ASD is modulated by differences associated with co-occurring conditions, such as attention-deficit/hyperactivity disorder (ADHD). This study aimed to (1) investigate between-group differences in autistic individuals with and without co-occurring ADHD, and to (2) link these variances to putative genomic underpinnings.

Risk and resilience in developmental diversity: Protocol of developing ICF core sets

Melissa H. Black, Leni Van Goidsenhoven, Kristien Hens, Thomas Bourgeron, and Sven Bölte, Neurodiversity, September 2023.

Abstract. Despite facing more adversity and being at a greater risk of poor long-term outcomes, many neurodivergent individuals thrive and have a “good life” according to subjective and objective standards. Research and clinical practice have most often focused on risk and negative outcomes in neurodivergent individuals. In comparison, very little attention has been paid to resilience and positive outcomes, and individualized assessment of risk and resilience is required for this population. The International Classification of Functioning, Disability, and Health (ICF) provides a framework to examine positive functional outcomes and the factors important for risk and resilience in developmental diversity. 

Phenotypic effects of genetic variants associated with autism

Rolland, T., Cliquet, F., Anney, R.J.L. et al., Nature Medicine, June 2023.

Abstract. While over 100 genes have been associated with autism, little is known about the prevalence of variants affecting them in individuals without a diagnosis of autism. Nor do we fully appreciate the phenotypic diversity beyond the formal autism diagnosis. Based on data from more than 13,000 individuals with autism and 210,000 undiagnosed individuals, we estimated the odds ratios for autism associated to rare loss-of-function (LoF) variants in 185 genes associated with autism, alongside 2,492 genes displaying intolerance to LoF variants. In contrast to autism-centric approaches, we investigated the correlates of these variants in individuals without a diagnosis of autism. 

Child hyperactivity, mother-child negativity, and sibling dyad negativity: A transactional family systems approach

Slava Dantchev, Dieter Wolke, Martina Zemp, Journal of Family Psychology, May 2023.

Abstract. Attention-deficit/hyperactivity disorder (ADHD) is among the most common mental disorders in children and adolescents. While most studies in this field have focused on the genetic and neurobiological underpinnings of the disorder, research focusing on the family environment as a critical context contributing toward the manifestation and maintenance of child ADHD symptoms is still less extensive. Therefore, the aim of this study was to examine longitudinal and bidirectional associations between child hyperactivity, mother-child negativity, and sibling dyad negativity. Data were analyzed of up to 4,429 children from the Avon Longitudinal Study of Parents and Children, a nationally representative prospective birth cohort study in the United Kingdom, at three time points (T1-T3, children aged 4, 7, and 8 years). 

Developmental diversity: Putting the development back into research about developmental conditions

Kristien Hens and Leni Van Goidsenhoven, Frontiers in Psychiatry, January 2023.

Abstract. The dominant discourse surrounding neurodevelopmental conditions such as autism and ADHD emphasizes biological explanations. Neurodevelopmental conditions are conceived as different types of brains, the result of different types of genes. This way of thinking is present both in medical research and in clinical practice. Indeed, it is widely acknowledged that the idea of having a biological diagnosis helps people see beyond blame and guilt. It aids acceptance. However, simplistic approaches to biology risks neglecting the experiences and stories of autistic people in favor of finding etiological causes. At the same time, there is growing awareness that risks, functioning, and resilience are not solely defined by genes and brains but have a cultural and experiential component as well.