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Article ; Online: Concurrent predictors of mathematics achievement for 9-year-old children with Williams syndrome.

Guimaraes, Vitor N / Mervis, Carolyn B

2024 Volume 14, Issue 1, Page(s) 2454

Abstract: Research on mathematics achievement by children with Williams syndrome (WS) has been very limited. We describe the math achievement of 72 9-year-olds with WS, compare their math and reading achievement, and explore concurrent predictors of math ... ...

Abstract	Research on mathematics achievement by children with Williams syndrome (WS) has been very limited. We describe the math achievement of 72 9-year-olds with WS, compare their math and reading achievement, and explore concurrent predictors of math achievement using the Wechsler Individual Achievement Test-III (WIAT-III) to measure achievement and the Differential Ability Scales-II (DAS-II) to measure cognitive abilities. For both Numerical Operations and Math Problem Solving, mean standard scores (SSs) were in the mild disability range with a full range from severe disability to average ability. Bayesian robust estimation indicated decisive evidence that average reading performance was higher than average math performance. Bayesian multiple linear regression models with informative priors accounted for 60% of the variance in Numerical Operations SS with decisive evidence supporting an effect of Working Memory SS and strong evidence for Nonverbal Reasoning SS and Spatial SS and 71% of the variance in Math Problem Solving SS with decisive evidence supporting effects of Working Memory and Nonverbal Reasoning SS, strong evidence for Verbal SS, and substantial evidence for Spatial SS. These predictors are consistent with those for typically developing individuals, supporting consideration of interventions that have been highly effective for children with math difficulties in the general population.
MeSH term(s)	Child ; Humans ; Williams Syndrome ; Bayes Theorem ; Cognition ; Problem Solving ; Memory, Short-Term ; Mathematics
Language	English
Publishing date	2024-01-30
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-024-52639-7
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: 7q11.23 deletion and duplication.

Osborne, Lucy R / Mervis, Carolyn B

Current opinion in genetics & development

2021 Volume 68, Page(s) 41–48

Abstract: Copy number variation (CNV) at 7q11.23 causes distinct disorders with both contrasting and overlapping phenotypic features of some but not all of the genes encompassed by the CNV. The spectrum of cognitive disabilities, psychopathology and altered ... ...

Abstract	Copy number variation (CNV) at 7q11.23 causes distinct disorders with both contrasting and overlapping phenotypic features of some but not all of the genes encompassed by the CNV. The spectrum of cognitive disabilities, psychopathology and altered behaviours associated with 7q11.23 CNV provides a tantalizing window of opportunity to better understand the molecular bases for complex human cognitive function and social behaviour. Study of individuals with atypical CNVs has narrowed the field of candidate genes, and the generation of mouse models has allowed further insight into their functions. Recent research has used high-throughput genomics techniques to interrogate the transcriptome and methylome, and initial strategies to correct gene transcription levels, pathophysiology and cognitive and behavioural phenotypes show promise.
MeSH term(s)	Chromosomes, Human, Pair 7 ; Cognition ; DNA Copy Number Variations ; Epigenome ; Gene Deletion ; Gene Duplication ; Genetic Association Studies ; Genomics/methods ; Humans ; Neurodevelopmental Disorders/genetics ; Social Behavior ; Transcriptome ; Williams Syndrome/genetics
Language	English
Publishing date	2021-02-17
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1077312-5
ISSN	1879-0380 ; 0959-437X
ISSN (online)	1879-0380
ISSN	0959-437X
DOI	10.1016/j.gde.2021.01.013
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Article: Longitudinal Predictors of Word Reading for Children with Williams Syndrome.

Richter, Caroline G / Cardoso-Martins, Cláudia / Mervis, Carolyn B

Reading and writing

2022 Volume 36, Issue 8, Page(s) 2119–2145

Abstract: We examined the cognitive, language, and instructional predictors of early word-reading ability in a sample of children with Williams syndrome longitudinally. At Time 1, sixty-nine 6-7-year-olds (mean age = 6.53 years) completed standardized measures of ... ...

Abstract	We examined the cognitive, language, and instructional predictors of early word-reading ability in a sample of children with Williams syndrome longitudinally. At Time 1, sixty-nine 6-7-year-olds (mean age = 6.53 years) completed standardized measures of phonological awareness, visual-spatial perception, vocabulary, and overall intellectual ability. Word-reading instruction type was classified as (systematic) Phonics (
Language	English
Publishing date	2022-11-15
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1478082-3
ISSN	1573-0905 ; 0922-4777
ISSN (online)	1573-0905
ISSN	0922-4777
DOI	10.1007/s11145-022-10370-7
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Article: Age at Onset of Declarative Gestures and 24-Month Expressive Vocabulary Predict Later Language and Intellectual Abilities in Young Children With Williams Syndrome.

Becerra, Angela M / Mervis, Carolyn B

Frontiers in psychology

2019 Volume 10, Page(s) 2648

Abstract: Background: ...

Abstract	Background:
Language	English
Publishing date	2019-12-03
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2563826-9
ISSN	1664-1078
ISSN	1664-1078
DOI	10.3389/fpsyg.2019.02648
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Article ; Online: The Behavioral Phenotype of 7q11.23 Duplication Syndrome Includes Risk for Oppositional Behavior and Aggression.

Klein-Tasman, Bonita P / Yund, Brianna D / Mervis, Carolyn B

Journal of developmental and behavioral pediatrics : JDBP

2022 Volume 43, Issue 6, Page(s) e390–e398

Abstract: Objective: 7q11.23 duplication syndrome (Dup7) is a genetic disorder with a variable phenotype associated with cognitive and behavioral characteristics including a high incidence of expressive language difficulties, social anxiety, and oppositional or ... ...

Abstract	Objective: 7q11.23 duplication syndrome (Dup7) is a genetic disorder with a variable phenotype associated with cognitive and behavioral characteristics including a high incidence of expressive language difficulties, social anxiety, and oppositional or disruptive behavior. Correlates of aggression and oppositionality were examined. Method: Participants were 63 children with genetically confirmed Dup7 between the ages of 4 and 17 years. A multimethod, multi-informant approach was used to assess aggression and oppositional behavior, and the contributions of cognitive functioning, expressive language, autism spectrum, social anxiety, and hyperactivity/impulsivity (H/I) symptomatology were considered. Results: Elevated levels of aggression and oppositional behavior were found. Cognitive functioning, expressive language, and autism spectrum disorder symptomatology were not significantly related to parent ratings of aggression, although young children who had language and nonverbal cognitive delays were most likely to demonstrate examiner-observed aggression. Social anxiety and H/I symptomatology were related to defiant/aggressive and oppositional behavior. Conclusion: Genes in the 7q11.23 region duplicated in Dup7, in transaction with the environment, may contribute to aggressive and oppositional behavior.
MeSH term(s)	Aggression/psychology ; Attention Deficit Disorder with Hyperactivity/psychology ; Attention Deficit and Disruptive Behavior Disorders/epidemiology ; Attention Deficit and Disruptive Behavior Disorders/genetics ; Autism Spectrum Disorder/epidemiology ; Autism Spectrum Disorder/genetics ; Humans ; Phenotype ; Problem Behavior
Language	English
Publishing date	2022-05-17
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	603379-9
ISSN	1536-7312 ; 0196-206X
ISSN (online)	1536-7312
ISSN	0196-206X
DOI	10.1097/DBP.0000000000001068
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Article ; Online: Altered pubertal timing in 7q11.23 copy number variations and associated genetic mechanisms.

Wei, Shau-Ming / Gregory, Michael D / Nash, Tiffany / de Abreu E Gouvêa, Andrea / Mervis, Carolyn B / Cole, Katherine M / Garvey, Madeline H / Kippenhan, J Shane / Eisenberg, Daniel P / Kolachana, Bhaskar / Schmidt, Peter J / Berman, Karen F

iScience

2024 Volume 27, Issue 3, Page(s) 109113

Abstract: Pubertal timing, including age at menarche (AAM), is a heritable trait linked to lifetime health outcomes. Here, we investigate genetic mechanisms underlying AAM by combining genome-wide association study (GWAS) data with investigations of two rare ... ...

Abstract	Pubertal timing, including age at menarche (AAM), is a heritable trait linked to lifetime health outcomes. Here, we investigate genetic mechanisms underlying AAM by combining genome-wide association study (GWAS) data with investigations of two rare genetic conditions clinically associated with altered AAM: Williams syndrome (WS), a 7q11.23 hemideletion characterized by early puberty; and duplication of the same genes (7q11.23 Duplication syndrome [Dup7]) characterized by delayed puberty. First, we confirm that AAM-derived polygenic scores in typically developing children (TD) explain a modest amount of variance in AAM (R
Language	English
Publishing date	2024-02-06
Publishing country	United States
Document type	Journal Article
ISSN	2589-0042
ISSN (online)	2589-0042
DOI	10.1016/j.isci.2024.109113
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Article: Concurrent predictors of word reading and reading comprehension for 9-year-olds with Williams syndrome.

Mervis, Carolyn B / Greiner de Magalhães, Caroline / Cardoso-Martins, Cláudia

Reading and writing

2021 Volume 35, Issue 2, Page(s) 377–397

Abstract: We examined the cognitive, language, and instructional factors associated with reading ability in Williams syndrome (WS). Seventy 9-year-olds with WS completed standardized measures of real-word reading, pseudoword decoding, reading comprehension, ... ...

Abstract	We examined the cognitive, language, and instructional factors associated with reading ability in Williams syndrome (WS). Seventy 9-year-olds with WS completed standardized measures of real-word reading, pseudoword decoding, reading comprehension, phonological skills, listening comprehension, nonverbal reasoning, visual-spatial ability, verbal working memory, rapid naming, and vocabulary. Reading instruction method was determined from school records and interviews with parents and teachers. Similar to prior findings for individuals with WS, reading ability varied widely, ranging from inability to read any words to reading comprehension at age level. Multiple regression analyses indicated that the primary concurrent predictor of word reading ability was reading instruction method, with a systematic phonics approach associated with considerably better performance than other reading instruction approaches. Phonological processing skills-as assessed by a composite of phonological awareness and verbal short-term memory-also contributed significant unique variance to word reading ability, as did visual-spatial ability. The concurrent predictors of reading comprehension were single-word reading and listening comprehension. These findings indicate that the factors that predict concurrent early word reading and reading comprehension abilities for children with WS are consistent with previous findings for typically developing children and that the Simple View of Reading applies to children with WS. Children with WS benefit strongly from systematic phonics instruction regardless of IQ. Instruction focused on improving listening comprehension is likely to improve reading comprehension, especially as word reading skills increase. Supplementary information: The online version contains supplementary material available at 10.1007/s11145-021-10163-4.
Language	English
Publishing date	2021-07-03
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1478082-3
ISSN	1573-0905 ; 0922-4777
ISSN (online)	1573-0905
ISSN	0922-4777
DOI	10.1007/s11145-021-10163-4
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Article ; Online: Spelling abilities of school-aged children with Williams syndrome.

Greiner de Magalhães, Caroline / Cardoso-Martins, Cláudia / Mervis, Carolyn B

Research in developmental disabilities

2021 Volume 120, Page(s) 104129

Abstract: Aims: We examined the relation between spelling ability and word-reading ability in children with Williams syndrome (WS).: Methods: Eighty 9-17-year-olds with genetically-confirmed WS completed standardized tests of spelling, word reading, and ... ...

Abstract	Aims: We examined the relation between spelling ability and word-reading ability in children with Williams syndrome (WS). Methods: Eighty 9-17-year-olds with genetically-confirmed WS completed standardized tests of spelling, word reading, and intellectual ability; 45 also completed tests of phonological awareness and vocabulary. Reading instruction method was classified as Phonics or Other. Results: Spelling ability varied widely. Although at the group level, spelling standard scores (SSs) were significantly lower than word-reading SSs, at the individual level, this difference was significant for fewer than half the participants. Spelling and reading SSs were highly correlated, even after controlling for intellectual ability. Students taught to read using systematic phonics instruction had significantly higher spelling SSs than those taught to read using other approaches, even after controlling for intellectual ability. Spelling ability contributed significant unique variance to word-reading ability, beyond the effects of phonological awareness, vocabulary, and reading instruction method. Conclusions: Our findings are consistent with Ehri's Word Identity Amalgamation Theory. In combination with previous meta-analytic findings for typically developing children (Graham & Santangelo, 2014) our results suggest that children with WS are likely to benefit from the inclusion of systematic spelling instruction as part of a systematic phonics approach to teaching word reading.
MeSH term(s)	Child ; Humans ; Phonetics ; Reading ; Schools ; Vocabulary ; Williams Syndrome
Language	English
Publishing date	2021-12-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	639175-8
ISSN	1873-3379 ; 0891-4222
ISSN (online)	1873-3379
ISSN	0891-4222
DOI	10.1016/j.ridd.2021.104129
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Article ; Online: Early diagnostic indicators of childhood apraxia of speech in young children with 7q11.23 duplication syndrome: preliminary findings.

Abbiati, Claudia I / Velleman, Shelley L / Overby, Megan S / Becerra, Angela M / Mervis, Carolyn B

Clinical linguistics & phonetics

2022 Volume 37, Issue 4-6, Page(s) 330–344

Abstract: Limited evidence for early indicators of childhood apraxia of speech (CAS) precludes reliable diagnosis before 36 months, although a few prior studies have identified several potential early indicators. We examined these possible early indicators in 10 ... ...

Abstract	Limited evidence for early indicators of childhood apraxia of speech (CAS) precludes reliable diagnosis before 36 months, although a few prior studies have identified several potential early indicators. We examined these possible early indicators in 10 toddlers aged 14-24 months at risk for CAS due to a genetic condition: 7q11.23 duplication syndrome (Dup7). Phon Vocalisation analyses were conducted on phonetic transcriptions of each child's vocalisations during an audio-video recorded 30-minute play session with a caregiver and/or a trained research assistant. The resulting data were compared to data previously collected by Overby from similar-aged toddlers developing typically (TD), later diagnosed with CAS (LCAS), or later diagnosed with another speech sound disorder (LSSD). The Dup7 group did not differ significantly from the LCAS group on any measure. In contrast, the Dup7 group evidenced significant delays relative to the LSSD group on canonical babble frequency, volubility, consonant place diversity, and consonant manner diversity and relative to the TD group not only on these measures but also on canonical babble ratio, consonant diversity, and vocalisation structure diversity. Toddlers with Dup7 also demonstrated expressive vocabulary delay as measured by both number of word types orally produced during the play sessions and primary caregivers' responses on a standardised parent-report measure of early expressive vocabulary. Examining babble, phonetic, and phonotactic characteristics from the productions of young children may allow for earlier identification of CAS and a better understanding of the nature of CAS.
MeSH term(s)	Humans ; Child, Preschool ; Speech/physiology ; Apraxias/diagnosis ; Apraxias/genetics ; Speech Disorders ; Phonetics ; Speech Production Measurement
Language	English
Publishing date	2022-06-02
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	639459-0
ISSN	1464-5076 ; 0269-9206
ISSN (online)	1464-5076
ISSN	0269-9206
DOI	10.1080/02699206.2022.2080590
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Article ; Online: DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number.

Strong, Emma / Mervis, Carolyn B / Tam, Elaine / Morris, Colleen A / Klein-Tasman, Bonita P / Velleman, Shelley L / Osborne, Lucy R

NPJ genomic medicine

2023 Volume 8, Issue 1, Page(s) 25

Abstract: Williams-Beuren syndrome (WBS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders caused by deletion and duplication of a 1.5 Mb region that includes at least five genes with a known role in epigenetic regulation. We have shown ...

Abstract	Williams-Beuren syndrome (WBS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders caused by deletion and duplication of a 1.5 Mb region that includes at least five genes with a known role in epigenetic regulation. We have shown that CNV of this chromosome segment causes dose-dependent, genome-wide changes in DNA methylation, but the specific genes driving these changes are unknown. We measured genome-wide whole blood DNA methylation in six participants with atypical CNV of 7q11.23 (three with deletions and three with duplications) using the Illumina HumanMethylation450k array and compared their profiles with those from groups of individuals with classic WBS or classic Dup7 and with typically developing (TD) controls. Across the top 1000 most variable positions we found that only the atypical rearrangements that changed the copy number of GTF2IRD1 and/or GTF2I (coding for the TFII-IRD1 and TFII-I proteins) clustered with their respective syndromic cohorts. This finding was supported by results from hierarchical clustering across a selection of differentially methylated CpGs, in addition to pyrosequencing validation. These findings suggest that CNV of the GTF2I genes at the telomeric end of the 7q11.23 interval is a key contributor to the large changes in DNA methylation that are seen in blood DNA from our WBS and Dup7 cohorts, compared to TD controls. Our findings suggest that members of the TFII-I protein family are involved in epigenetic processes that alter DNA methylation on a genome-wide level.
Language	English
Publishing date	2023-09-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2813848-X
ISSN	2056-7944 ; 2056-7944
ISSN (online)	2056-7944
ISSN	2056-7944
DOI	10.1038/s41525-023-00368-7
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