“Knowledge is Power”: Parent Views on the Benefits of Early Diagnosis and Awareness of Sex Chromosome Multisomy Among Pediatric Professionals

Abstract

Objective: Pediatric diagnoses of sex chromosome multisomies (SCMs) have increased as genetic testing has expanded. However, depending on SCM presentation, there may be significant delays between symptom recognition and diagnosis. We conducted a survey of parents of children diagnosed with SCMs to understand their experiences receiving an SCM diagnosis and their support needs. Methods: We conducted an inductive qualitative analysis of open-ended survey responses for iterative themes related to presenting symptoms, diagnostic odyssey, immediate and long-term support needs, and awareness of SCMs. Results: Of the 323 parents who completed the survey, 185 parents received a pediatric diagnosis (0-21 years) in a child. Many parents expressed feelings of relief when receiving the diagnosis, especially if it occurred after a lengthy diagnostic odyssey. Parents reported frustration that their child's nonmedical symptoms, including learning disabilities, speech delays, attention deficits, and behavioral issues, were not flagged as potential indications for SCMs and suggested that greater awareness of SCMs by pediatricians, educators, and other professionals involved in their child's care may lead to earlier diagnosis and intervention. Conclusion: This is the largest qualitative study to date examining parent and caregiver experiences with a pediatric diagnosis of SCMs. Increased knowledge and awareness of nonmedical SCM symptoms are needed among medical, education, occupational, and psychology professionals for early testing referral and improved support of children with SCMs.

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

“…Additionally, screening for SCA during pregnancy shortens the potential diagnostic odyssey for children who do present with a more severe SCA phenotype. Parents of children with SCA who received a pediatric diagnosis expressed frustration as the early signs of these conditions were missed by medical professionals (Riggan et al 2022). Furthermore, parents reported that diagnostic delay led to several important negative outcomes for their child, including missed opportunity to access interventions and supports earlier, lack of understanding from others, inability to develop effective parenting strategies at an earlier age, and inability to proactively advocate for their child (Riggan et al 2022).…”

“…Parents of children with SCA who received a pediatric diagnosis expressed frustration as the early signs of these conditions were missed by medical professionals (Riggan et al 2022). Furthermore, parents reported that diagnostic delay led to several important negative outcomes for their child, including missed opportunity to access interventions and supports earlier, lack of understanding from others, inability to develop effective parenting strategies at an earlier age, and inability to proactively advocate for their child (Riggan et al 2022). Given these challenges, one can see how prenatal screening and diagnosis can be of immense benefit to parents in being able to better provide for their child with SCA and adapt to their diagnosis.…”

“…Much of the uncertainty and worry that parents experience at the time of diagnosis can be mitigated by improving their understanding of the diagnosis and its prognosis (Jaramillo et al 2019 ; Lalatta et al 2012 ; Riggan et al 2021 ). While it is common for families to experience feelings of worry and uncertainty, some families, especially those with children diagnosed postnatally, may feel relieved after receiving a diagnosis (Riggan et al 2020 , 2022 ). Conversely, parents who receive a prenatal diagnosis are at an increased risk of feeling depressed, anxious, and less optimistic (Jaramillo et al 2019 ; Riggan et al 2020 , 2021 ).…”

“…Firstly, early diagnosis of SCA during pregnancy allows expecting parents more time to prepare and earlier access to recommended therapies and interventions (Bevilacqua et al 2018 ; Jaramillo et al 2019 ; Riggan et al 2021 ). These benefits cannot be understated, as earlier intervention allows for improved outcomes in children with SCA and additional time for parents to adapt to the diagnosis.…”

“…Furthermore, studies have shown that current counseling regarding prenatal screening of SCA has room for improvement. For example, parents of children with SCA have reported being unaware of SCA as a possible result from prenatal screening or diagnosis or that a positive NIPS result requires follow up confirmatory testing (Ramdaney et al 2018 ; Riggan et al 2021 ). Additionally, parents receiving a prenatal diagnosis express a desire for supportive communication concerning parental education and transparency regarding the variable phenotype of SCA conditions (Riggan et al 2021 ).…”