The diagnostic journey of genetically defined neurodevelopmental disorders

Abstract

Background The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of various NDDs. However, diagnostic genetics has far outpaced our ability to provide timely medical counseling, guidance, and care for patients with genetically defined NDDs. These patients and their caregivers present with an unmet need for care coordination across multiple domains including medical, developmental, and psychiatric care and for educational resources and guidance from care professionals. After a genetic diagnosis is made, families also face several barriers in access to informed diagnostic evaluations and medical support. Methods As part of Care and Research in Neurogenetics (CARING), a multidisciplinary clinical program for children and adults with neurogenetic disorders, we conducted qualitative clinical interviews about the diagnostic journey of families. This included the overall timeline to receiving diagnoses, experiences before and after diagnosis, barriers to care, and resources that helped them to navigate the diagnostic process. Results A total of 37 interviews were conducted with parents of children ages 16 months to 33 years. Several key themes were identified: (1) delays between initial caregiver observations and formal developmental or genetic diagnoses; (2) practical barriers to clinical evaluation and care, including long wait times for an appointment, lack of insurance coverage, availability of local evaluations, transportation difficulties, and native language differences; (3) the importance of being part of a patient advocacy group to help navigate the diagnostic journey; and (4) unique challenges faced by adults (18 years or older). Conclusions Families of children with complex neurodevelopmental and genetic disabilities face numerous challenges in finding adequate medical care and services for their child. They experience considerable delays in receiving timely diagnoses and face significant barriers that further delay the process of receiving access to services needed for the child’s continued care. The gaps indicated in this study speak to the need for more comprehensive coordination of care for patients with intellectual and developmental disabilities, as well as the development of systematic, disorder-specific resources both for providers and families in order to improve patient outcomes.

Genomics-informed Neuropsychiatric Care for Neurodevelopmental Disorders: Results from A Multidisciplinary Clinic

“…Importantly, the basic needs and clinical presentations of these various rare disorders overlap considerably. By addressing these needs holistically, this could greatly shorten the “diagnostic and therapeutic odyssey” that so many families of youth with NDDs face in trying to get appropriate medical care [12].…”

“…Patients from our clinic have reported particular difficulty with delays between initial caregiver concerns for NDDs and formal developmental or genetic diagnoses and barriers to specialized care including long wait times for an appointment, lack of insurance coverage, lack of availability of local evaluations, transportation difficulties, and native language differences [12].…”

“…We describe our experience over a five-year period, evaluating 316 patients. We identify key ways in which our genomics-informed approach to neuropsychiatric care can alleviate aspects of the diagnostic and treatment odyssey [12], and highlight challenges that we faced. Based on our experience, we highlight the urgent need for medical educators and health care administrators to reconsider disorder-specific approaches to genomic medicine and instead emphasize more generalized genomic training so that clinicians and health systems are equipped to expertly care for a growing population of patients with ultra-rare genetic disorders.…”

Lived experiences of the diagnostic assessment process for fetal alcohol spectrum disorder: A systematic review of qualitative evidence

“…This is not uncommon, with previous statistics from Canada showing a missed diagnosis rate of 80% for FASD and a misdiagnosis rate of 6.4% (Chasnoff et al, 2015 ). Early developmental concerns identified by caregivers are often accurate and are later validated by physicians as medically significant (Simon et al, 2022 ), underscoring the importance of acknowledging the expertise that caregivers bring regarding their child's life. Family‐centered care that values working collaboratively with families has previously been suggested as key to FASD‐informed care delivery (Joly et al, 2022 ; Reid, Crawford, et al, 2022 ) and could be considered as a critical approach to the assessment and diagnostic process.…”

Deep learning-based, fully automated, pediatric brain segmentation

“…Neurodevelopmental disorders (NDD) are highly prevalent among children aged 3 to 17 in the United States, affecting approximately 17% of this population 1 . Recent advancements in genetic technologies have led to the identification of genetic causes in 15–53% of NDD cases 2 , but comprehensive phenotypic evaluation, including laboratory tests and neuroimaging, remains crucial for precise genetic diagnosis. Eventually, these evaluations provide insights into the underlying mechanisms and potential biomarkers associated with these disorders.…”