FDA: FDA Grants Accelerated Approval for Alzheimer’s Drug. https://www.fda.gov/news-events/press-announcements/fda-grants-accelerated-approval-alzheimers-drug (2021).

FDA: FDA Grants Accelerated Approval for Alzheimer’s Disease Treatment. https://www.fda.gov/news-events/press-announcements/fda-grants-accelerated-approval-alzheimers-disease-treatment (2023).

FDA: FDA Briefing Document NDA# 216660 Drug Name: AMX0035/ sodium phenylbutyrate (PB) and taurursodiol (TURSO) Applicant: Amylyx Pharmaceuticals, Inc. Peripheral and Central Nervous System Drugs Advisory Committee (PCNS) Meeting. https://www.fda.gov/media/161378/download (2022).

FDA: FDA approves first treatment for Friedreich’s ataxia. https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-treatment-friedreichs-ataxia (2023).

Burroughs AW, Krain LP. What Might Aducanumab Teach Us About Clinicians’ Judgment About Whether to Recommend Emerging Alzheimer’s Interventions? AMA J Ethics. 2023;25(10):E777–82. https://doi.org/10.1001/amajethics.2023.777.

Article  PubMed  Google Scholar 

FDA: FDA approves first treatment for Rett Syndrome. https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-treatment-rett-syndrome (2023).

EMBO. Molecular and physiological basis of behavioural/cognitive defects in Neurodevelopmental disorders. Bengaluru, India, 2022. https://meetings.embo.org/event/21-neurodev

Hampson DR, Gholizadeh S, Pacey LK. Pathways to drug development for autism spectrum disorders. Clin Pharmacol Ther. 2012;91(2):189–200. https://doi.org/10.1038/clpt.2011.245.

Article  CAS  PubMed  Google Scholar 

Kaufmann WE, Moser HW. Dendritic anomalies in disorders associated with mental retardation. Cereb Cortex. 2000;10(10):981–91. https://doi.org/10.1093/cercor/10.10.981.

Article  CAS  PubMed  Google Scholar 

Ramocki MB, Zoghbi HY. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature. 2008;455(7215):912–8. https://doi.org/10.1038/nature07457.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sohal VS, Rubenstein JLR. Excitation-inhibition balance as a framework for investigating mechanisms in neuropsychiatric disorders. Mol Psychiatry. 2019;24(9):1248–57. https://doi.org/10.1038/s41380-019-0426-0.

Article  PubMed  PubMed Central  Google Scholar 

Banerjee A, Miller MT, Li K, Sur M, Kaufmann WE. Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. Brain. 2019;142(2):239–48. https://doi.org/10.1093/brain/awy323.

Article  PubMed  PubMed Central  Google Scholar 

Centonze D, Rossi S, Mercaldo V, Napoli I, Ciotti MT, De Chiara V, et al. Abnormal striatal GABA transmission in the mouse model for the fragile X syndrome. Biol Psychiatry. 2008;63(10):963–73. https://doi.org/10.1016/j.biopsych.2007.09.008.

Article  CAS  PubMed  Google Scholar 

Olmos-Serrano JL, Paluszkiewicz SM, Martin BS, Kaufmann WE, Corbin JG, Huntsman MM. Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome. J Neurosci. 2010;30(29):9929–38. https://doi.org/10.1523/jneurosci.1714-10.2010.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Valeeva G, Valiullina F, Khazipov R. Excitatory actions of GABA in the intact neonatal rodent hippocampus in vitro. Front Cell Neurosci. 2013;7:20. https://doi.org/10.3389/fncel.2013.00020.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Antoine MW, Langberg T, Schnepel P, Feldman DE. Increased Excitation-Inhibition Ratio Stabilizes Synapse and Circuit Excitability in Four Autism Mouse Models. Neuron. 2019;101(4):648-61.e4. https://doi.org/10.1016/j.neuron.2018.12.026.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ismail FY, Ljubisavljevic MR, Johnston MV. A conceptual framework for plasticity in the developing brain. Handb Clin Neurol. 2020;173:57–66. https://doi.org/10.1016/b978-0-444-64150-2.00007-1.

Article  PubMed  Google Scholar 

Motil KJ, Geerts S, Annese F, Neul JL, Benke T, Marsh E, et al. Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome. J Pediatr. 2022;244:169-77.e3. https://doi.org/10.1016/j.jpeds.2022.01.009.

Article  PubMed  PubMed Central  Google Scholar 

Turrigiano GG. The self-tuning neuron: synaptic scaling of excitatory synapses. Cell. 2008;135(3):422–35. https://doi.org/10.1016/j.cell.2008.10.008.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hollestein V, Poelmans G, Forde NJ, Beckmann CF, Ecker C, Mann C, et al. Excitatory/inhibitory imbalance in autism: the role of glutamate and GABA gene-sets in symptoms and cortical brain structure. Transl Psychiatry. 2023;13(1):18. https://doi.org/10.1038/s41398-023-02317-5.

Article  PubMed  PubMed Central  Google Scholar 

Sheridan C. Drugmakers plow more resources into autism. Nat Biotechnol. 2013;31(5):367–9. https://doi.org/10.1038/nbt0513-367.

Article  CAS  PubMed  Google Scholar 

Mullard A. Fragile X disappointments upset autism ambitions. Nat Rev Drug Discov. 2015;14(3):151–3. https://doi.org/10.1038/nrd4555.

Article  CAS  PubMed  Google Scholar 

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515(7526):209–15. https://doi.org/10.1038/nature13772.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yasuda Y, Matsumoto J, Miura K, Hasegawa N, Hashimoto R. Genetics of autism spectrum disorders and future direction. J Hum Genet. 2023;68(3):193–7. https://doi.org/10.1038/s10038-022-01076-3.

Article  CAS  PubMed  Google Scholar 

Ford TJL, Jeon BT, Lee H, Kim WY. Dendritic spine and synapse pathology in chromatin modifier-associated autism spectrum disorders and intellectual disability. Front Mol Neurosci. 2022;15:1048713. https://doi.org/10.3389/fnmol.2022.1048713.

Article  CAS  PubMed  Google Scholar 

Ong LT, Fan SWD. Morphological and Functional Changes of Cerebral Cortex in Autism Spectrum Disorder. Innov Clin Neurosci. 2023;20(10–12):40–7.

PubMed  PubMed Central  Google Scholar 

Kereszturi É. Diversity and Classification of Genetic Variations in Autism Spectrum Disorder. Int J Mol Sci. 2023;24(23). https://doi.org/10.3390/ijms242316768.

Vorstman JAS, Parr JR, Moreno-De-Luca D, Anney RJL, Nurnberger JI Jr, Hallmayer JF. Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet. 2017;18(6):362–76. https://doi.org/10.1038/nrg.2017.4.

Article  CAS  PubMed  Google Scholar 

De Luca F. Endocrinological Abnormalities in Autism. Semin Pediatr Neurol. 2020;35:100582. https://doi.org/10.1016/j.spen.2016.04.001.

Article  PubMed  Google Scholar 

Fernandez BA, Scherer SW. Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. Dialogues Clin Neurosci. 2017;19(4):353–71. https://doi.org/10.31887/DCNS.2017.19.4/sscherer.

Article  PubMed  PubMed Central  Google Scholar 

Thom RP, McDougle CJ. Immune Modulatory Treatments for Autism Spectrum Disorder. Semin Pediatr Neurol. 2020;35:100836. https://doi.org/10.1016/j.spen.2020.100836.

Article  PubMed  Google Scholar 

Bonvicini C, Faraone SV, Scassellati C. Attention-deficit hyperactivity disorder in adults: A systematic review and meta-analysis of genetic, pharmacogenetic and biochemical studies. Mol Psychiatry. 2016;21(7):872–84. https://doi.org/10.1038/mp.2016.74.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Neul JL, Skinner SA, Annese F, Lane J, Heydemann P, Jones M, et al. Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings. Front Integr Neurosci. 2020;14:7. https://doi.org/10.3389/fnint.2020.00007.

Article  CAS  PubMed