Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion

Bayley, N. (1993). Bayley scales of infant development-2nd Ed. San Antonio, TX: Psychological Corporation.

Bernier R, Hudac CM, Chen Q, Zeng C, Wallace AS, Gerdts J, Earl R, Peterson J, Wolken A, Peters A, Hanson E, Goin-Kochel RP, Kanne S, Snyder LG, Chung WK. Developmental trajectories for young children with 16p11.2 copy number variation. Am J Med Genet B Neuropsychiatr Genet. 2017;174(4):367–80. https://doi.org/10.1002/ajmg.b.32525.

Article  CAS  PubMed  Google Scholar 

Chawner SJRA, Doherty JL, Anney RJL, Antshel KM, Bearden CE, Bernier R, Chung WK, Clements CC, Curran SR, Cuturilo G, Fiksinski AM, Gallagher L, Goin-Kochel RP, Gur RE, Hanson E, Jacquemont S, Kates WR, Kushan L, Maillard AM, van den Bree MBM. A genetics-first approach to dissecting the heterogeneity of autism: Phenotypic comparison of autism risk copy number variants. Am J Psychiatry. 2021;178(1):77–86. https://doi.org/10.1176/appi.ajp.2020.20010015.

Article  PubMed  PubMed Central  Google Scholar 

Chawner SJRA, Doherty JL, Moss H, Niarchou M, Walters JTR, Owen MJ, van den Bree MBM. Childhood cognitive development in 22q11.2 deletion syndrome: case-control study. Br J Psychiatry. 2017;211(4):223–30. https://doi.org/10.1192/bjp.bp.116.195651.

Article  PubMed  PubMed Central  Google Scholar 

Chawner SJRA, Owen MJ, Holmans P, Raymond FL, Skuse D, Hall J, van den Bree MBM. Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study. The Lancet Psychiatry. 2019;6(6):493–505. https://doi.org/10.1016/S2215-0366(19)30123-3.

Article  PubMed  Google Scholar 

Chung WK, Roberts TP, Sherr EH, Snyder LG, Spiro JE. 16p11.2 deletion syndrome. Curr Opin Genet Dev. 2021;68:49–56. https://doi.org/10.1016/j.gde.2021.01.011.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Conti-Ramsden G, Durkin K. Language Development and Assessment in the Preschool Period. Neuropsychol Rev. 2012;22(4):384–401. https://doi.org/10.1007/s11065-012-9208-z.

Article  PubMed  Google Scholar 

D’Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LAG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJRA, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Wolken A. Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities. JAMA Psychiatry. 2016;73(1):20–30. https://doi.org/10.1001/jamapsychiatry.2015.2123.

Article  PubMed  PubMed Central  Google Scholar 

Duijff SN, Klaassen PWJ, Swanenburg De Veye HFN, Beemer FA, Sinnema G, Vorstman JAS. Cognitive development in children with 22q11.2 deletion syndrome. Br J Psychiatry. 2012;200(6):462–8. https://doi.org/10.1192/bjp.bp.111.097139.

Article  PubMed  Google Scholar 

Goldenberg P. An Update on Common Chromosome Microdeletion and Microduplication Syndromes. Pediatr Ann. 2018;47(5):e198–203. https://doi.org/10.3928/19382359-20180419-01.

Article  PubMed  Google Scholar 

Goldman S, McCullough AK, Young SD, Mueller C, Stahl A, Zoeller A, Abbruzzese LD, Rao AK, Montes J. Quantitative gait assessment in children with 16p11.2 syndrome. Journal of Neurodevelopmental Disorders. 2019;11(26):1–5. https://doi.org/10.1186/s11689-019-9286-9.

Article  Google Scholar 

Graauwmans PEA, Scheirs JGM, Feltzer MJA., Kouijzer MEJ, de Kroon MMJ. VIQ-PIQ Discrepancies are Unrelated to Mental Health Indicators in a Child Psychiatric Sample. Int J Clin Psychiatry Mental Health. 2017;5: 39–45. https://doi.org/10.12970/2310-8231.2017.05.06

Hanson E, Bernier R, Porche K, Jackson FI, Goin-Kochel RP, Snyder LG, Snow AV, Wallace AS, Campe KL, Zhang Y, Chen Q, D’Angelo D, Moreno-De-Luca A, Orr PT, Boomer KB, Evans DW, Kanne S, Berry L, Miller FK, Chung WK. The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population. Biol Psychiatry. 2015;77(9):785–93. https://doi.org/10.1016/j.biopsych.2014.04.021.

Article  CAS  PubMed  Google Scholar 

Hendriks MPH, van der Heijden PT, van Dijk M, Ruiter S, van der Vlugt H. De Wechsler intelligentietest voor kinderen 5e editie: WISC-V. Neuropraxis. 2019;23(3):63–71. https://doi.org/10.1007/s12474-019-00224-4.

Article  Google Scholar 

Hendriksen J, Hurks P. WPPSI-III-NL Wechsler Preschool and Primary Scale of Intelligence; Nederlandse bewerking. Amsterdam: Pearson; 2009.

Jacquemont S, Huguet G, Klein M, Chawner SJRA, Donald KA, van den Bree MBM, Sebat J, Ledbetter DH, Constantino JN, Earl RK, McDonald-McGinn DM, van Amelsvoort T, Swillen A, O’Donnell-Luria AH, Glahn DC, Almasy L, Eichler EE, Scherer SW, Robinson E, Gur RE. Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. Am J Psychiatry. 2022;179(3):189–203. https://doi.org/10.1176/appi.ajp.2021.21040432.

Article  PubMed  PubMed Central  Google Scholar 

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BBA, Esko T, Fernandez BA, Fernández-Aranda F, Froguel P. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 2011;478(7367):97–102. https://doi.org/10.1038/nature10406.

Article  CAS  PubMed  PubMed Central  Google Scholar 

JASP Team. (2022). JASP (Version 0.16.4) [Computer software] ((Version 0.16.4) [Computer software]).

Jutla A, Turner JB, Green Snyder L, Chung WK, Veenstra-VanderWeele J. Psychotic symptoms in 16p11.2 copy-number variant carriers. Autism Res. 2020;13(2):187–98. https://doi.org/10.1002/aur.2232.

Article  PubMed  Google Scholar 

Kim SH, Green-Snyder L, Lord C, Bishop S, Steinman KJ, Bernier R, Hanson E, Goin-Kochel RP, Chung WK. Language characterization in 16p11.2 deletion and duplication syndromes. Am J Med Genet B Neuropsychiatric Genet. 2020;183(6):380–91. https://doi.org/10.1002/ajmg.b.32809.

Article  CAS  Google Scholar 

Kliegman MR, Stanton BF, St Geme JW, Schor NF. Nelson Textbook of Pediatrics, vol. 1. 20th ed. Barnett: Elsevier; 2015.

Google Scholar 

Maillard AM, Hippolyte L, Rodriguez-Herreros B, Chawner SJRA, Dremmel D, Agüera Z, Fagundo AB, Pain A, Martin-Brevet S, Hilbert A, Kurz S, Etienne R, Draganski B, Jimenez-Murcia S, Männik K, Metspalu A, Reigo A, Isidor B, Le Caignec C, Jacquemont S. 16p11.2 Locus modulates response to satiety before the onset of obesity. Int J Obes. 2016;40(5):870–6. https://doi.org/10.1038/ijo.2015.247.

Article  CAS  Google Scholar 

Månsson J, Stjernqvist K, Serenius F, Ådén U, Källén K. Agreement Between Bayley-III Measurements and WISC-IV Measurements in Typically Developing Children. J Psychoeduc Assess. 2019;37(5):603–16. https://doi.org/10.1177/0734282918781431.

Article  Google Scholar 

Matson JL, Kozlowski AM. The increasing prevalence of autism spectrum disorders. Research in Autism Spectrum Disorders. 2011;5(1):418–25. https://doi.org/10.1016/j.rasd.2010.06.004.

Article  Google Scholar 

Mei C, Fedorenko E, Amor DJ, Boys A, Hoeflin C, Carew P, Burgess T, Fisher SE, Morgan AT. Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion. Eur J Hum Genet. 2018;26(5):676–86. https://doi.org/10.1038/s41431-018-0102-x.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Modenato C, Kumar K, Moreau C, Martin-Brevet S, Huguet G, Schramm C, Jean-Louis M, Martin CO, Younis N, Tamer P, Douard E, Thébault-Dagher F, Côté V, Charlebois AR, Deguire F, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S, Jacquemont S. Effects of eight neuropsychiatric copy number variants on human brain structure. Transl Psychiatry. 2021;11(1):399. https://doi.org/10.1038/s41398-021-01490-9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, Ledbetter DH. The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions. JAMA Psychiatry. 2015;72(2):119. https://doi.org/10.1001/jamapsychiatry.2014.2147.

Article  PubMed  Google Scholar 

Mortillo M, Mulle JG. A cross-comparison of cognitive ability across 8 genomic disorders. Curr Opin Genet Dev. 2021;68:106–16. https://doi.org/10.1016/j.gde.2021.04.001.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Niarchou M, Chawner SJRA, Doherty JL, Maillard AM, Jacquemont S, Chung WK, Green-Snyder L, Bernier RA, Goin-Kochel RP, Hanson E, Linden DEJ, Linden SC, Raymond FL, Skuse D, Hall J, Owen MJ, van den Bree MBM. Psychiatric disorders in children with 16p11.2 deletion and duplication. Translational Psychiatry. 2019;9(1):8. https://doi.org/10.1038/s41398-018-0339-8.

Article  PubMed  PubMed Central  Google Scholar 

Nieuwhof-Leppink AJ, Schroeder RPJ, van de Putte EM, de Jong TPVM, Schappin R. Daytime urinary incontinence in children and adolescents. The Lancet Child & Adolescent Health. 2019;3(7):492–501. https://doi.org/10.1016/S2352-4642(19)30113-0.

Article  Google Scholar 

OECD. Education at a Glance 2017: OECD Indicators. OECD Publishing. 2017. https://doi.org/10.1787/eag-2017-en.

Article  Google Scholar 

Comments (0)

No login
gif