"Knowledge is Power": Parent Views on the Benefits of Early Diagnosis and Awareness of Sex Chromosome Multisomy Among Pediatric Professionals.
Kirsten A Riggan, Brianna Gross, Sharron Close and 2 others
PMID 36454640WHAT IT FOUND
Parents of children with sex chromosome multisomies reported that speech, learning, and behavioral signs were missed by pediatric professionals, delaying diagnosis.
They urged greater awareness of these soft markers to trigger earlier referral and support.
Key findings
01Parents reported that clinicians, including speech-language pathologists, missed soft signs of sex chromosome multisomies, leading to diagnostic delays and frustration.
02A specific constellation of non-medical impairments, such as speech delays and executive dysfunction, may prompt earlier genetic evaluation if recognized as potential markers of sex chromosome multisomies.
03Post-diagnosis support remains fragmented, with parents struggling to navigate educational eligibility criteria and requesting specific materials to explain developmental profiles to educators.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
Self-selection bias is significant, as participants were recruited through a patient advocacy organization, likely skewing the sample toward families already engaged with support groups and potentially holding stronger views on diagnosis. The cohort predominantly self-identified as non-Hispanic White, limiting the generalizability of findings to more diverse populations who may face different barriers to care. Children diagnosed in the pediatric period may represent more severe phenotypes, potentially overestimating the visibility of symptoms compared to the broader SCM population. Survey response rates could not be calculated due to social media distribution, and completion rates varied by question, meaning some themes may be based on a subset of the 185 respondents.
Declared interests
Funding was provided by the National Institutes of Health (Extramural). The authors declared no conflicts of interest.
The easy way to misread this
Do not assume that a high IQ or the absence of dysmorphic physical features rules out a sex chromosome multisomy. Parents reported that children with normal intelligence and no visible physical differences were frequently overlooked, leading to years of misdiagnosis and fragmented care.