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Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders
Emma K Baker1,2,3, Miya St John1,4, Ruth Braden1,4
1Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Insights
A transdiagnostic approach better explains adaptive behaviors in children with monogenic neurodevelopmental disorders (NDDs). This reveals individual strengths and challenges for more targeted support, regardless of specific genetic variants.
Area of Science:
- Neuroscience
- Genetics
- Developmental Psychology
Background:
- Monogenic neurodevelopmental disorders (NDDs) present diverse behavioral phenotypes.
- Understanding adaptive behavior is crucial for supporting individuals with NDDs.
- Syndrome-specific approaches may not fully capture the heterogeneity of adaptive functioning.
Purpose of the Study:
- To compare syndrome-specific versus transdiagnostic approaches for understanding adaptive behavior in monogenic NDDs.
- To identify adaptive behavior profiles in children with genetically confirmed monogenic NDDs.
Main Methods:
- Cross-sectional study of 243 individuals (ages 1-25) with genetically confirmed monogenic NDDs.
- Parent/caregiver completion of the Vineland Adaptive Behavior Scales, Third Edition.
- Analysis using linear regression and latent profile analysis.
Main Results:
- Few significant differences in adaptive behaviors were found between specific monogenic NDD groups when adjusting for intellectual disability.
- Children with BRPF1 or KANSL1 variants showed better adaptive skills than those with CDK13, DDX3X, DYRK1A, and KAT6A variants.
- Latent profile analysis identified five homogeneous profiles, with most NDDs represented across profiles, suggesting transdiagnostic patterns.
Conclusions:
- A transdiagnostic approach offers a more comprehensive understanding of adaptive behavior in monogenic NDDs.
- Identifying shared adaptive profiles aids in recognizing individual strengths and challenges.
- This approach facilitates the development of more targeted interventions and support strategies.
Aim:
To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes of these NDDs.
Method:
This cross-sectional study included parents and caregivers of 243 (48% female) individuals (age range = 1-25 years; mean = 8 years 10 months, SD = 5 years 8 months) with genetically confirmed monogenic NDDs (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents and caregivers completed the Vineland Adaptive Behavior Scales, Third Edition to assess communication, daily living, socialization, and motor skills.
Results:
Linear regression models comparing mean adaptive behaviours between monogenic NDDs, adjusting for the presence of intellectual disability, revealed few group differences. Children with variants in BRPF1 or KANSL1 had better adaptive behaviour skills compared to children with variants in CDK13, DDX3X, DYRK1A, and KAT6A, although group differences varied across domains. A latent profile analysis showed compelling evidence for a five-profile model. These profiles were homogeneous, with similar delays across the subdomain scores in each profile. Additionally, each monogenic NDD was represented in each profile, with a few exceptions.
Interpretation:
Transdiagnostic approaches to understand adaptive behaviour in monogenic NDDs provide a better understanding of individual strengths and challenges, enabling more targeted support.
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