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

Abstract

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.

Keywords: Genetic disorder; Genetics; Interdisciplinary clinic; Mental health; Neurodevelopmental disorder; Psychiatry; Psychology; Research framework.

Fig. 1

(a) Overview of DAGSY referral flow. (b) Assessment procedure for DAGSY *Feedback appointment initially in person, during pandemic exclusively online, currently offered in both modalities to families

Fig. 2

Pre-existing and new NPD diagnoses prior to and following DAGSY assessment This figure shows the proportion of children per NPD diagnosis count (including developmental delay as a diagnosis), calculated for three age groups. The proportion of children without a pre-existing NPD diagnosis is highest in the youngest age group, whereas in the older age groups the proportion of children with multiple NPD diagnoses increases, indicative of an accumulation of diagnoses over time in this population

Fig. 3

Survey results