Editorial: A Child with ADNP Syndrome: A Case Study of Symptoms, Diagnostic Process and Innovative Behavioral Intervention Modes

. 2025 Apr 24 ; 75 (2) : 53. [epub] 20250424

Status In-Process Jazyk angličtina Země Spojené státy americké Médium electronic

Typ dokumentu úvodníky

Perzistentní odkaz   https://www.medvik.cz/link/pmid40272624
Odkazy

PubMed 40272624
DOI 10.1007/s12031-025-02344-5
PII: 10.1007/s12031-025-02344-5
Knihovny.cz E-zdroje

Zobrazit více v PubMed

Arnett AB, Beighley JS, Kurtz-Nelson EC, Hoekzema K, Wang T, Bernier RA, Eichler EE (2020) Developmental predictors of cognitive and adaptive outcomes in genetic subtypes of autism spectrum disorder. Autism Res 13(10):1659–1669. https://doi.org/10.1002/aur.2385 PubMed DOI PMC

Attar SM, Bradstreet LE, Ramsey RK, Kelly K, Robins DL (2023) Validation of the electronic modified checklist for autism in toddlers, revised with follow-up: a nonrandomized controlled trial. J Pediatr 262:113343. https://doi.org/10.1016/j.jpeds.2022.11.044 PubMed DOI PMC

Bassan M, Zamostiano R, Davidson A, Pinhasov A, Giladi E, Perl O, Bassan H, Blat C, Gibney G, Glazner G, Brenneman DE, Gozes I (1999) Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide. J Neurochem 72(3):1283–1293. https://doi.org/10.1046/j.1471-4159.1999.0721283.x PubMed DOI

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

Fuller EA, Oliver K, Vejnoska SF, Rogers SJ (2020) The effects of the early start denver model for children with autism spectrum disorder: a meta-analysis. Brain Sci 10(6). https://doi.org/10.3390/brainsci10060368

Gozes I (2020) The ADNP syndrome and CP201 (NAP) potential and hope. Front Neurol 11:608444. https://doi.org/10.3389/fneur.2020.608444 PubMed DOI PMC

Gozes I, Patterson MC, Van Dijck A, Kooy RF, Peeden JN, Eichenberger JA, Zawacki-Downing A, Bedrosian-Sermone S (2017a) The eight and a half year journey of undiagnosed AD: gene sequencing and funding of advanced genetic testing has led to hope and new beginnings. Front Endocrinol (Lausanne) 8:107. https://doi.org/10.3389/fendo.2017.00107 PubMed DOI

Gozes I, Van Dijck A, Hacohen-Kleiman G, Grigg I, Karmon G, Giladi E, Eger M, Gabet Y, Pasmanik-Chor M, Cappuyns E, Elpeleg O, Kooy RF, Bedrosian-Sermone S (2017b) Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. Transl Psychiatry 7(2):e1043. https://doi.org/10.1038/tp.2017.27 PubMed DOI PMC

Gozes I, Shapira G, Lobyntseva A, Shomron N (2023) Unexpected gender differences in progressive supranuclear palsy reveal efficacy for davunetide in women. Transl Psychiatry 13(1):319. https://doi.org/10.1038/s41398-023-02618-9 PubMed DOI PMC

Gozes I, Blatt J, Lobyntseva A (2024a) Davunetide sex-dependently boosts memory in prodromal Alzheimer’s disease. Transl Psychiatry 14(1):412. https://doi.org/10.1038/s41398-024-03118-0 PubMed DOI PMC

Gozes I, Shazman S, Giladi E, Levine J (2024b) Protective inherited mutations in activity-dependent neuroprotective protein (ADNP): the good, the bad, and the ugly. Genomic Psychiatry. https://doi.org/10.61373/gp024r.0079

Grigg I, Ivashko-Pachima Y, Hait TA, Korenkova V, Touloumi O, Lagoudaki R, Van Dijck A, Marusic Z, Anicic M, Vukovic J, Kooy RF, Grigoriadis N, Gozes I (2020) Tauopathy in the young autistic brain: novel biomarker and therapeutic target. Transl Psychiatry 10(1):228. https://doi.org/10.1038/s41398-020-00904-4 PubMed DOI PMC

Hacohen-Kleiman G, Sragovich S, Karmon G, Gao AYL, Grigg I, Pasmanik-Chor M, Le A, Korenkova V, McKinney RA, Gozes I (2018) Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome. J Clin Invest 128(11):4956–4969. https://doi.org/10.1172/JCI98199 PubMed DOI PMC

Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Anneren G, Fichera M, Bosco P … Van der Aa N (2014) A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet 46(4):380–384. https://doi.org/10.1038/ng.2899

Karmon G, Sragovich S, Hacohen-Kleiman G, Ben-Horin-Hazak I, Kasparek P, Schuster B, Sedlacek R, Pasmanik-Chor M, Theotokis P, Touloumi O, Zoidou S, Huang L, Wu PY, Shi R, Kapitansky O, Lobyntseva A, Giladi E, Shapira G, Shomron N, … Gozes I (2022) Novel ADNP syndrome mice reveal dramatic sex-specific peripheral gene expression with brain synaptic and tau pathologies. Biol Psychiatry 92(1):81–95. https://doi.org/10.1016/j.biopsych.2021.09.018

Larsen E, Menashe I, Ziats MN, Pereanu W, Packer A, Banerjee-Basu S (2016) A systematic variant annotation approach for ranking genes associated with autism spectrum disorders. Mol Autism 7:44. https://doi.org/10.1186/s13229-016-0103-y PubMed DOI PMC

Levine J, Lobyntseva A, Shazman S, Hakim F, Gozes I (2024) Longitudinal genotype-phenotype (Vineland Questionnaire) characterization of 15 ADNP syndrome cases highlights mutated protein length and structural characteristics correlation with communicative abilities accentuated in males. J Mol Neurosci 74(1):15. https://doi.org/10.1007/s12031-024-02189-4 PubMed DOI

Malishkevich A, Amram N, Hacohen-Kleiman G, Magen I, Giladi E, Gozes I (2015) Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer’s pathologies. Transl Psychiatry 5(2):e501. https://doi.org/10.1038/tp.2014.138 PubMed DOI PMC

Mandel S, Gozes I (2007) Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex. J Biol Chem 282(47):34448–34456. https://doi.org/10.1074/jbc.M704756200 PubMed DOI

Mandel S, Rechavi G, Gozes I (2007) Activity-dependent neuroprotective protein (ADNP) differentially interacts with chromatin to regulate genes essential for embryogenesis. Dev Biol 303(2):814–824. https://doi.org/10.1016/j.ydbio.2006.11.039 PubMed DOI

Pinhasov A, Mandel S, Torchinsky A, Giladi E, Pittel Z, Goldsweig AM, Servoss SJ, Brenneman DE, Gozes I (2003) Activity-dependent neuroprotective protein: a novel gene essential for brain formation. Brain Res Dev Brain Res 144(1):83–90. https://doi.org/10.1016/s0165-3806(03)00162-7 PubMed DOI

Shapira G, Karmon G, Hacohen-Kleiman G, Ganaiem M, Shazman S, Theotokis P, Grigoriadis N, Shomron N, Gozes I (2024) ADNP is essential for sex-dependent hippocampal neurogenesis, through male unfolded protein response and female mitochondrial gene regulation. Mol Psychiatry. https://doi.org/10.1038/s41380-024-02879-w PubMed DOI PMC

Van Dijck, A., Vulto-van Silfhout, A. T., Cappuyns, E., van der Werf, I. M., Mancini, G. M., Tzschach, A., Bernier, R., Gozes, I., Eichler, E. E., Romano, C., Lindstrand, A., Nordgren, A., Consortium, A., Kvarnung, M., Kleefstra, T., de Vries, B. B. A., Kury, S., Rosenfeld, J. A., Meuwissen, M. E., … Kooy, R. F (2019) Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP. Biol Psychiatry 85(4):287–297. https://doi.org/10.1016/j.biopsych.2018.02.1173 DOI

Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Van der Aa N, Kooy RF (2014) The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. Am J Med Genet C Semin Med Genet 166C(3):315–326. https://doi.org/10.1002/ajmg.c.31413 PubMed DOI

Vulih-Shultzman I, Pinhasov A, Mandel S, Grigoriadis N, Touloumi O, Pittel Z, Gozes I (2007) Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model. J Pharmacol Exp Ther 323(2):438–449. https://doi.org/10.1124/jpet.107.129551 PubMed DOI

Najít záznam

Citační ukazatele

Nahrávání dat ...

Možnosti archivace

Nahrávání dat ...