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Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies.
Am J Med Genet C Semin Med Genet. 2020 06; 184(2):414-427.AJ

Abstract

Sex chromosome aneuploidies (SCAs) are the most commonly occurring aneuploidies in children with a collective prevalence rate of 1 in 500 live births. Prior research has documented SCAs are associated with an increased risk for early expressive language and gross motor delays, learning disorders, ADHD, autism spectrum disorder, anxiety, and executive function problems. Although SCAs have been historically underdiagnosed in young children, recent advances in noninvasive prenatal testing have resulted in an increasing nationwide cohort of infants with confirmed diagnoses. Consequently, early childhood support systems must prepare for an influx of children with known risks for associated developmental delays and potential school problems. This national survey aimed to update our understanding of current early childhood intervention services for young children with SCA in the United States and to describe parent perspectives and priorities. Descriptive statistics, chi-square tests, and logistic regression models controlling for parent education revealed a majority of respondents reported receiving public early childhood intervention services with speech therapy as the most common service. There were significant differences in early childhood intervention services by timing of diagnosis (prenatal vs. postnatal), number of sex chromosomes (trisomy vs. tetra/pentasomy), and geographic location. Parents described interventions as desirable and effective yet also difficult to obtain due to issues with the SCA phenotype, lack of provider knowledge, and challenges navigating the intervention systems. Results support the need for enhanced provider training in SCAs, policy change for early childhood intervention qualification criteria for SCA conditions, and collaboration between medical and early childhood settings.

Links

Authors+Show Affiliations

Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA. eXtraordinarY Kids Program, Children's Hospital Colorado, Aurora, Colorado, USA.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA. eXtraordinarY Kids Program, Children's Hospital Colorado, Aurora, Colorado, USA.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA. eXtraordinarY Kids Program, Children's Hospital Colorado, Aurora, Colorado, USA.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA. eXtraordinarY Kids Program, Children's Hospital Colorado, Aurora, Colorado, USA.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA. eXtraordinarY Kids Program, Children's Hospital Colorado, Aurora, Colorado, USA.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA. eXtraordinarY Kids Program, Children's Hospital Colorado, Aurora, Colorado, USA.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA. Department of Biostatistics and Informatics, Colorado School of Public Health, Aurora, Colorado, USA.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA. eXtraordinarY Kids Program, Children's Hospital Colorado, Aurora, Colorado, USA.

MeSH

AneuploidyAutism Spectrum DisorderChildChild, PreschoolFemaleHumansInfantKaryotypingMalePregnancyPrenatal DiagnosisSex Chromosome AberrationsSex Chromosome DisordersSex Chromosomes

Pub Type(s)

Journal Article

Research Support, N.I.H., Extramural

Language

eng

PubMed ID

32449585

Citation

Thompson, Talia, et al. "Current Survey of Early Childhood Intervention Services in Infants and Young Children With Sex Chromosome Aneuploidies." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 184, no. 2, 2020, pp. 414-427.

Thompson T, Howell S, Davis S, et al. Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies. Am J Med Genet C Semin Med Genet. 2020;184(2):414-427.

Thompson, T., Howell, S., Davis, S., Wilson, R., Janusz, J., Boada, R., Pyle, L., & Tartaglia, N. (2020). Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 184(2), 414-427. https://doi.org/10.1002/ajmg.c.31785

Thompson T, et al. Current Survey of Early Childhood Intervention Services in Infants and Young Children With Sex Chromosome Aneuploidies. Am J Med Genet C Semin Med Genet. 2020;184(2):414-427. PubMed PMID: 32449585.

* Article titles in AMA citation format should be in sentence-case

TY - JOUR T1 - Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies. AU - Thompson,Talia, AU - Howell,Susan, AU - Davis,Shanlee, AU - Wilson,Rebecca, AU - Janusz,Jennifer, AU - Boada,Richard, AU - Pyle,Laura, AU - Tartaglia,Nicole, Y1 - 2020/05/25/ PY - 2020/02/04/received PY - 2020/04/15/revised PY - 2020/04/16/accepted PY - 2020/5/26/pubmed PY - 2021/5/6/medline PY - 2020/5/26/entrez KW - Klinefelter syndrome KW - developmental delay KW - early childhood intervention KW - sex chromosome aneuploidy KW - |X and Y variations| early childhood special education SP - 414 EP - 427 JF - American journal of medical genetics. Part C, Seminars in medical genetics JO - Am J Med Genet C Semin Med Genet VL - 184 IS - 2 N2 - Sex chromosome aneuploidies (SCAs) are the most commonly occurring aneuploidies in children with a collective prevalence rate of 1 in 500 live births. Prior research has documented SCAs are associated with an increased risk for early expressive language and gross motor delays, learning disorders, ADHD, autism spectrum disorder, anxiety, and executive function problems. Although SCAs have been historically underdiagnosed in young children, recent advances in noninvasive prenatal testing have resulted in an increasing nationwide cohort of infants with confirmed diagnoses. Consequently, early childhood support systems must prepare for an influx of children with known risks for associated developmental delays and potential school problems. This national survey aimed to update our understanding of current early childhood intervention services for young children with SCA in the United States and to describe parent perspectives and priorities. Descriptive statistics, chi-square tests, and logistic regression models controlling for parent education revealed a majority of respondents reported receiving public early childhood intervention services with speech therapy as the most common service. There were significant differences in early childhood intervention services by timing of diagnosis (prenatal vs. postnatal), number of sex chromosomes (trisomy vs. tetra/pentasomy), and geographic location. Parents described interventions as desirable and effective yet also difficult to obtain due to issues with the SCA phenotype, lack of provider knowledge, and challenges navigating the intervention systems. Results support the need for enhanced provider training in SCAs, policy change for early childhood intervention qualification criteria for SCA conditions, and collaboration between medical and early childhood settings. SN - 1552-4876 UR - https://www.unboundmedicine.com/medline/citation/32449585/Current_survey_of_early_childhood_intervention_services_in_infants_and_young_children_with_sex_chromosome_aneuploidies_ DB - PRIME DP - Unbound Medicine ER -