Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective<scp>eXtraordinarY</scp>babies study to identify early risk factors and targets for intervention

Tartaglia, Nicole; Howell, Susan; Davis, Shanlee; Kowal, Karen; Tanda, Tanea; Brown, Mariah; Boada, Cristina; Alston, Amanda; Crawford, Leah; Thompson, Talia; Rijn, Sophie van; Wilson, Rebecca L.; Janusz, Jennifer; Ross, Judith L.

doi:10.1002/ajmg.c.31807

Cited by 31 publications

(56 citation statements)

References 148 publications

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“…Both historic and more recent natural history studies support that the majority of children born with an extra sex chromosome will experience developmental delays in early childhood, including early speech-language or motor delays (Bender et al, 1983;Robinson et al, 1982;Tartaglia et al, 2020). Reduced expressive language and speech sound disorders (e.g.…”

Section: Implications For Schoolmentioning

confidence: 99%

“…Low muscle tone and poor sensorimotor coordination can also present, leading to lagging motor skills, including delayed walking (Martin et al, 2019;Salbenblatt et al, 1987;Salbenblatt et al, 1989). A recent nationwide parental survey indicated that a significant portion of young children with SCAs living in the US receive early intervention (EI) therapies and/or early childhood special education preschool prior to entering kindergarten (Thompson et al, 2020).…”

Section: Implications For Schoolmentioning

confidence: 99%

“…All participants were required to be able to read in English in order to access the survey content. Data from the birth-to-five subsample on early childhood intervention services are documented elsewhere (Thompson et al, 2020). The current analysis includes parents of children in the U.S., ages 5-21 years, who had entered and/or recently completed the K-12 school system.…”

Section: Participant Recruitment and Inclusion Criteriamentioning

confidence: 99%

“…Early childhood education teams should consider the high frequency of IEPs in school-aged children with SCAs when transitioning a child from Part C (early intervention) into Part B services (preschool special education). This is especially important considering parents tend to report a pattern of subclinical developmental concerns that narrowly miss the qualification cutoff for special education services in early childhood (Thompson et al, 2020). As such, it is important for teachers to closely follow the progress of children with SCAs as students who did not qualify for services in preschool may qualify in the early elementary grades or beyond as academic demands increase.…”

Section: Practical Implications and Future Directionsmentioning

confidence: 99%

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Supporting Students with Sex Chromosome Aneuploidies in Educational Settings

Thompson¹,

Davis²,

Janusz³

et al. 2021

Preprint

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Children with sex chromosome aneuploidies (SCAs) are at an increased risk for neurocognitive and behavioral disorders that may interfere with academic success, including early developmental delays, learning disabilities, executive function problems, and social communication deficits. A national survey study aimed to update and extend our understanding of school supports and educational outcomes for students with these increasingly common genetic diagnoses. Parents of children with a diagnosed SCA, birth to 21 years, living in the U.S. (N=248), responded to an electronic survey with questions focused on school support plans, academic accommodations, educational therapies, school completion, and perceptions of educator awareness of SCAs. Results revealed high rates of delayed kindergarten, grade retention in primary years, and educational support plans (IEPs = 71%; 504 Plans = 26%). Despite a clear profile of educational need, a majority (73%) of respondents with children over age 18 (N=41) reported their child successfully completed high school, and nearly half (46%) pursued post-secondary education opportunities. Many parents reported their child’s educators had little to no knowledge of SCA conditions, justifying a need to train teachers and policy makers in the unique educational needs of children and adolescents with SCAs. School psychologists should be aware of the frequent need for accommodations and individualized support plans in this population so they can support children and families by advocating for early and comprehensive evaluations and intervention plans.

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Section: Implications For Schoolmentioning

confidence: 99%

Section: Implications For Schoolmentioning

confidence: 99%

Section: Participant Recruitment and Inclusion Criteriamentioning

confidence: 99%

Section: Practical Implications and Future Directionsmentioning

confidence: 99%

See 2 more Smart Citations

Supporting Students with Sex Chromosome Aneuploidies in Educational Settings

Thompson¹,

Davis²,

Janusz³

et al. 2021

Preprint

Self Cite

View full text Add to dashboard Cite

show abstract

“…In general, students with SCAs have increased risks for learning disabilities and academic challenges, medical problems and hormone dysfunction, as well as increased risk for psychological disorders that can impact school functioning such as ADHD, ASD, anxiety, and depression (Tartaglia et al, 2020;Urbanus et al, 2020). Natural history studies have documented a pattern of educational struggles and current surveys have shown high rates of early interventions and special education supports in this student population (Bender et al, 1993;Linden & Bender, 2002;Rovet et al, 1996;Thompson et al, 2020).…”

mentioning

confidence: 99%

Exploring academic and character strengths in students with sex chromosome aneuploidies

et al. 2021

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Children with sex chromosome aneuploidies (SCAs) are often characterized in the literature by limitations and pathologies related to the genetic diagnosis. This study aimed to broaden the SCA phenotype by describing parent reported character and academic strengths. Parents of children with SCAs ages 3-21 (N=377) responded to an electronic survey asking them to describe their child’s strengths in academic settings. Responses were coded for strengths-based content and analyzed using a mixed-methods content analysis approach. We identified overarching qualitative themes of Social Strengths and Assets for Learning. Quantitative results showed a pattern of overlapping strengths among the trisomy SCAs (perseverance and love of learning), with some significant differences between children with supernumerary X chromosomes (strengths in kindness) and those with an additional Y chromosome (strengths in curiosity, humor, and teamwork). Suggestions for future strengths-based research and educational practices to address academic, developmental, and psychosocial risks are explored.

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Early developmental impact of sex chromosome trisomies on attention deficit‐hyperactivity disorder symptomology in young children

Kuiper

Swaab

Tartaglia

et al. 2021

American J of Med Genetics Pt A

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Individuals with sex chromosome trisomies ([SCT], XXX, XXY, and XYY)) are at increased risk for neurodevelopmental problems, given that a significant portion of the sex chromosome genes impact brain functioning. An elevated risk for psychopathology has also been described, including attention deficit-hyperactivity disorder (ADHD). The present study aimed at identifying early markers of ADHD, providing the first investigation of ADHD symptomology in very young children with SCT. The variety, type, and severity of ADHD symptomology in 1-6-year-old children with SCT (n = 104) were compared with population-based controls (n = 101) using the strengths and weaknesses of ADHD symptoms and normal-behavior (SWAN) parent-report questionnaire. ADHD symptomology was significantly more prevalent in SCT and already present from toddlerhood on, compared to controls. ADHD inattention symptoms were significantly increased in all karyotypes (XXX, XXY, and XYY), boys with XYY also showed significantly more hyperactivity/impulsivity symptoms than controls.Inattentiveness was more pronounced with increasing age for SCT, in contrast to controls. Within the SCT group, 24% of the children had significantly elevated ADHD symptoms at a clinical level. Already from an early age on, SCT is associated with a risk for ADHD, suggesting that its neurodevelopmental risk lies anchored in early brain maturation. Studying this genetically vulnerable population allows for the prospective study of risk markers to facilitate early and preventive interventions.

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Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospectiveeXtraordinarYbabies study to identify early risk factors and targets for intervention

Cited by 31 publications

References 148 publications

Supporting Students with Sex Chromosome Aneuploidies in Educational Settings

Supporting Students with Sex Chromosome Aneuploidies in Educational Settings

Exploring academic and character strengths in students with sex chromosome aneuploidies

Early developmental impact of sex chromosome trisomies on attention deficit‐hyperactivity disorder symptomology in young children

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