A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

Shillington, Amelle; Lamy, Martine; Dominick, Kelli C.; Sorter, Michael T.; Erickson, Craig A.; Hopkin, Robert J.

doi:10.3389/fgene.2022.901458

Cited by 3 publications

(1 citation statement)

References 14 publications

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“…There are specialized clinics that provide comprehensive care to children with genetic variants such as those underlying Down syndrome, 22q11DS, Fragile X, Angelman and Prader-Willi syndromes, often embedding psychiatry and/or psychology within a broader service model [ 62 – 65 ]. Other approaches have involved integrating genetics into an outpatient psychiatric clinic for children with autism and/or ID to facilitate genetic evaluations and follow-up [ 66 , 67 ]. However, to the best of our knowledge, the DAGSY Clinic at SickKids is the first interdisciplinary clinic offering an integrated assessment by clinicians with expertise across psychiatry, development, cognition and genetics.…”

Section: Discussionmentioning

confidence: 99%

An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure

Summers,

Baribeau,

Perlman

et al. 2024

J Neurodevelop Disord

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Background A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis often precedes the emergence of diagnosable developmental concerns. Here, we describe DAGSY (Developmental Assessment of Genetically Susceptible Youth), a novel interdisciplinary ‘genetic-diagnosis-first’ clinic integrating psychiatric, psychological and genetic expertise, and report our first observations and feedback from families and referring clinicians. Methods We retrieved data on referral sources and indications, genetic and NPD diagnoses and recommendations for children seen at DAGSY between 2018 and 2022. Through a survey, we obtained feedback from twenty families and eleven referring clinicians. Results 159 children (mean age 10.2 years, 57.2% males) completed an interdisciplinary (psychiatry, psychology, genetic counselling) DAGSY assessment during this period. Of these, 69.8% had a pathogenic microdeletion or microduplication, 21.5% a sequence-level variant, 4.4% a chromosomal disorder, and 4.4% a variant of unknown significance with emerging evidence of pathogenicity. One in four children did not have a prior NPD diagnosis, and referral to DAGSY was motivated by their genetic vulnerability alone. Following assessment, 76.7% received at least one new NPD diagnosis, most frequently intellectual disability (24.5%), anxiety (20.7%), autism spectrum (18.9%) and specific learning (16.4%) disorder. Both families and clinicians responding to our survey expressed satisfaction, but also highlighted some areas for potential improvement. Conclusions DAGSY addresses an unmet clinical need for children identified with genetic variants that confer increased vulnerability for NPD and provides a crucial platform for research in this area. DAGSY can serve as a model for interdisciplinary clinics integrating child psychiatry, psychology and genetics, addressing both clinical and research needs for this emerging population.

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Section: Discussionmentioning

confidence: 99%

An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure

Summers,

Baribeau,

Perlman

et al. 2024

J Neurodevelop Disord

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A Genetic Bridge Between Medicine and Neurodiversity for Autism

Leblond,

Rolland,

Barthome

et al. 2024

Annual Review of Genetics

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Autism represents a large spectrum of diverse individuals with varying underlying genetic architectures and needs. For some individuals, a single de novo or ultrarare genetic variant has a large effect on the intensity of specific dimensions of the phenotype, while, for others, a combination of thousands of variants commonly found in the general population are involved. The variants with large impact are found in up to 30% of autistic individuals presenting with intellectual disability, significant speech delay, motor delay, and/or seizures. The common variants are shared with those found in individuals with attention-deficit/hyperactivity disorder, major depressive disorders, greater educational attainment, and higher cognitive performance, suggesting overlapping genetic architectures. The genetic variants modulate the function of chromatin remodeling and synaptic proteins that influence the connectivity of neuronal circuits and, in interaction with the environment of each individual, the subsequent cognitive and personal trajectory of the child. Overall, this genetic heterogeneity mirrors the phenotypic diversity of autistic individuals and provides a helpful bridge between biomedical and neurodiversity perspectives. We propose that participative and multidisciplinary research should use this information to understand better the assessment, treatments, and accommodations that individuals with autism and families need.

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Spotted around the web: Autism prevalence, RELN gene, fallout from changing abortion laws

Adams¹,

Hess²

2022

Spectrum

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A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

Cited by 3 publications

References 14 publications

An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure

An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure

A Genetic Bridge Between Medicine and Neurodiversity for Autism

Spotted around the web: Autism prevalence, RELN gene, fallout from changing abortion laws

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