Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions

Achenbach T, Rescorla L. Manual for the ASEBA School-Age Forms and Profiles. Burlington: University of Vermont, Research Center for Children, Youth, and Families; 2001.

American Psychiatric Association. Diagnostic and Statistical Manual of mental disorders (5th ed.). Arlington: Author; 2013.

Arnett AB, Beighley JS, Kurtz-Nelson EC, Hoekzema K, Wang T, Bernier RA, Eichler EE. Developmental predictors of cognitive and adaptive outcomes in genetic subtypes of autism spectrum disorder. Autism Res. 2020;13(10):1659–69. https://doi.org/10.1002/aur.2385.

Article  PubMed  PubMed Central  Google Scholar 

Arnett AB, Rhoads CL, Hoekzema K, Turner TN, Gerdts J, Wallace AS, Bernier RA. The autism spectrum phenotype in ADNP syndrome. Autism Res. 2018;11(9):1300–10. https://doi.org/10.1002/aur.1980.

Article  PubMed  PubMed Central  Google Scholar 

Beighley JS, Hudac CM, Arnett AB, Peterson JL, Gerdts J, Wallace AS, Bernier RA. Clinical phenotypes of carriers of mutations in CHD8 or its conserved target genes. Biol Psychiatry. 2020;87(2):123–31. https://doi.org/10.1016/j.biopsych.2019.07.020.

Article  CAS  PubMed  Google Scholar 

Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Eichler EE. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 2014;158(2):263–76. https://doi.org/10.1016/j.cell.2014.06.017.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bernier R, Hudac CM, Chen Q, Zeng C, Wallace AS, Gerdts J, consortium SV. 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 

Blakeley-Smith A, Meyer AT, Boles RE, Reaven J. Group cognitive behavioural treatment for anxiety in autistic adolescents with intellectual disability: a pilot and feasibility study. J Appl Res Intellect Disabil. 2021;34(3):777–88. https://doi.org/10.1111/jar.12854.

Article  PubMed  Google Scholar 

Chen L-S, Xu L, Huang T-Y, Dhar SU. Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders. Genet Med. 2013;15(4):274–81.

Article  PubMed  Google Scholar 

Costello H, Bouras N. Assessment of mental health problems in people with intellectual disabilities. Isr J Psychiatry Relat Sci. 2006;43(4):241–51.

PubMed  Google Scholar 

Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, de Vries BBA. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8. Transl Psychiatry. 2022;12(1):421. https://doi.org/10.1038/s41398-022-02189-1.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Douzgou S, Liang HW, Metcalfe K, Somarathi S, Tischkowitz M, Mohamed W, Study D.D.D. The clinical presentation caused by truncating CHD8 variants. Clin Genet. 2019;96(1):72–84. https://doi.org/10.1111/cge.13554.

Article  CAS  PubMed  Google Scholar 

Earl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RA. Clinical phenotype of ASD-associated. Mol Autism. 2017;8:54. https://doi.org/10.1186/s13229-017-0173-5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Earl RK, Ward T, Gerdts J, Eichler EE, Bernier RA, Hudac CM. Sleep problems in children with ASD and gene disrupting mutations. J Genet Psychol. 2021;182(5):317–34. https://doi.org/10.1080/00221325.2021.1922869.

Article  PubMed  PubMed Central  Google Scholar 

Elliott CD. Differential ability scales. 2nd ed. San Antonio: Harcourt Assessment; 2007.

Google Scholar 

Esbensen AJ, Hoffman EK, Shaffer R, Chen E, Patel L, Jacola L. Reliability of parent report measures of behaviour in children with down syndrome. J Intellect Disabil Res. 2018;62(9):785–97. https://doi.org/10.1111/jir.12533.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fastman J, Kolevzon A. ADNP syndrome: a qualitative assessment of symptoms, therapies, and challenges. Children (Basel). 2023;10(3):593. https://doi.org/10.3390/children10030593.

Article  PubMed  Google Scholar 

Fenster R, Ziegler A, Kentros C, Geltzeiler A, Green Snyder L, Brooks E, Chung WK. Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures. Am J Med Genet A. 2022;188(7):1954–63. https://doi.org/10.1002/ajmg.a.62721.

Article  CAS  PubMed  Google Scholar 

Fischbach GD, Lord C. The Simons simplex collection: a resource for identification of autism genetic risk factors. Neuron. 2010;68(2):192–5. https://doi.org/10.1016/j.neuron.2010.10.006.

Article  CAS  PubMed  Google Scholar 

Fok M, Bal VH. Differences in profiles of emotional behavioral problems across instruments in verbal versus minimally verbal children with autism spectrum disorder. Autism Res. 2019;12(9):1367–75. https://doi.org/10.1002/aur.2126.

Article  PubMed  PubMed Central  Google Scholar 

Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Talkowski ME. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet. 2022;54(9):1320–31. https://doi.org/10.1038/s41588-022-01104-0.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Halvorsen MB, Helverschou SB, Axelsdottir B, Brøndbo PH, Martinussen M. General measurement tools for assessing mental health problems among children and adolescents with an intellectual disability: a systematic review. J Autism Dev Disord. 2023;53(1):132–204. https://doi.org/10.1007/s10803-021-05419-5.

Article  PubMed  Google Scholar 

Hanly C, Shah H, Au PYB, Murias K. Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: a scoping review. Clin Genet. 2021;99(3):335–46. https://doi.org/10.1111/cge.13882.

Article  CAS  PubMed  Google Scholar 

Helland SS, Røysamb E, Wang MV, Gustavson K. Language difficulties and internalizing problems: bidirectional associations from 18 months to 8 years among boys and girls. Dev Psychopathol. 2018;30(4):1239–52. https://doi.org/10.1017/S0954579417001559.

Article  PubMed  Google Scholar 

Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Van der Aa N. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014;46(4):380–4. https://doi.org/10.1038/ng.2899.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hossain MM, Khan N, Sultana A, Ma P, McKyer ELJ, Ahmed HU, Purohit N. Prevalence of comorbid psychiatric disorders among people with autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses. Psychiatry Res. 2020;287:112922. https://doi.org/10.1016/j.psychres.2020.112922.

Article  PubMed  Google Scholar 

Hudac CM, Friedman NR, Ward VR, Estreicher RE, Dorsey GC, Bernier RA, Neuhaus E. Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability. J Autism Dev Disord 2023;1-16 https://doi.org/10.1007/s10803-023-05897-9

Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Wigler M. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014;515(7526):216–21. https://doi.org/10.1038/nature13908.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Wigler M. De novo gene disruptions in children on the autistic spectrum. Neuron. 2012;74(2):285–99. https://doi.org/10.1016/j.neuron.2012.04.009.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jeste SS, Geschwind DH. Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat Rev Neurol. 2014;10(2):74–81. https://doi.org/10.1038/nrneurol.2013.278.

Article  PubMed  PubMed Central  Google Scholar 

Kaufman L, Ayub M, Vincent JB. The genetic basis of non-syndromic intellectual disability: a review. J Neurodev Disord. 2010;2(4):182–209. https://doi.org/10.1007/s11689-010-9055-2.

Article  PubMed  PubMed Central  Google Scholar 

Kurtz-Nelson EC, Rea HM, Petriceks AC, Hudac CM, Wang T, Earl RK, Neuhaus E. Characterizing the autism spectrum phenotype in DYRK1A-related syndrome. Autism Res. 2023;16(8):1488–500. https://doi.org/10.1002/aur.2995.

Article  PubMed  Google Scholar 

Lai MC, Kassee C, Besney R, Bonato S, Hull L, Mandy W, Ameis SH. Prevalence of co-occurring mental health diagnoses in the autism population: a systematic review and meta-analysis. Lancet Psychiatry. 2019;6(10):819–29. https://doi.org/10.1016/S2215-0366(19)30289-5.

Article  PubMed  Google Scholar 

Lai MC, Lombardo MV, Baron-Cohen S. Autism. Lancet. 2014;383(9920):896–910. https://doi.org/10.1016/S0140-6736(13)61539-1.

Article  PubMed  Google Scholar 

Lord C, Rutter M, DiLavore PC, Risi S, Gotham K, Bishop S. Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) Manual (Part I): Modules 1–4. Torrance: Western Psychological Services; 2012.

Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview - Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994;24:659–85.

Article  CAS  PubMed  Google Scholar 

Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994;24(5):659–85. https://doi.org/10.1007/bf02172145.

留言 (0)

沒有登入
gif