Page 221 - Demo

General discussion and future perspectives219859. Fernandez A, Meechan DW, Karpinski BA, et al. Mitochondrial Dysfunction Leads to Cortical Under-Connectivity and Cognitive Impairment. Neuron. Jun 19 2019;102(6):1127-1142.e3. doi:10.1016/j.neuron.2019.04.01360. Bose A, Beal MF. Mitochondrial dysfunction in Parkinson’s disease. J Neurochem. Oct 2016;139 Suppl 1:216-231. doi:10.1111/jnc.1373161. Kolar D, Krajcovic B, Kleteckova L, Kuncicka D, Vales K, Brozka H. Revie Genes Involved in Mitochondrial Physiology Within 22q11.2 Deleted Region and Their Relevance to Schizophrenia. Schizophr Bull. Jun 28 2023;doi:10.1093/schbul/sbad06662. Boot E, Óskarsdóttir S, Loo JCY, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. Mar 2023;25(3):100344. doi:10.1016/j.gim.2022.11.01263. Zarchi O, Attias J, Raveh E, Basel-Vanagaite L, Saporta L, Gothelf D. A comparative study of hearing loss in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes. J Pediatr. Feb 2011;158(2):301-6. doi:10.1016/j.jpeds.2010.07.05664. Forbes BJ, Binenbaum G, Edmond JC, DeLarato N, McDonald-McGinn DM, Zackai EH. Ocular findings in the chromosome 22q11.2 deletion syndrome. J aapos. Apr 2007;11(2):179-82. doi:10.1016/j.jaapos.2006.08.00665. Van Eynde C, Swillen A, Lambeens E, et al. Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome. J Speech Lang Hear Res. Jun 1 2016;59(3):583-9. doi:10.1044/2015_jslhr-h-15-009866. Dykens EM. Aging in rare intellectual disability syndromes. Developmental Disabilities Research Reviews. 2013/08/01 2013;18(1):75-83. 67. Hoytema van Konijnenburg EMM, Wortmann SB, Koelewijn MJ, et al. Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app. Orphanet J Rare Dis. Apr 12 2021;16(1):170. doi:10.1186/s13023-021-01727-268. Ebrahimi-Fakhari D, Van Karnebeek C, Münchau A. Movement Disorders in Treatable Inborn Errors of Metabolism. Mov Disord. May 2019;34(5):598-613. doi:10.1002/mds.2756869. Overwater IE, Rietman AB, van Eeghen AM, de Wit MCY. Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives. Ther Clin Risk Manag. 2019;15:951-955. doi:10.2147/tcrm.S14563070. Tufekcioglu Z, Cakar A, Bilgic B, Hanagasi H, Gurvit H, Emre M. Adult-onset phenylketonuria with rapidly progressive dementia and parkinsonism. Neurocase. Jun 2016;22(3):273-5. doi:10.1080/13554794.2016.114256771. Hendrix JA, Amon A, Abbeduto L, et al. Opportunities, barriers, and recommendations in down syndrome research. Transl Sci Rare Dis. 2021;5(3-4):99-129. doi:10.3233/trd-20009072. Meuwese-Jongejeugd A, Verschuure H, Evenhuis HM. Hearing aids: expectations and satisfaction of people with an intellectual disability, a descriptive pilot study. J Intellect Disabil Res. Nov 2007;51(Pt 11):913-22. doi:10.1111/j.1365-2788.2007.00952.x73. Zinkstok JR, Boot E, Bassett AS, et al. Neurobiological perspective of 22q11.2 deletion syndrome. Lancet Psychiatry. Nov 2019;6(11):951-960. doi:10.1016/s2215-0366(19)30076-874. Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona-Iragui M. Alzheimer’s diseaseassociated with Down syndrome: a genetic form of dementia. Lancet Neurol. Nov 2021;20(11):930-942. doi:10.1016/s1474-4422(21)00245-375. Starr JM. Ageing and epigenetics: linking neurodevelopmental and neurodegenerative disorders. Dev Med Child Neurol. Oct 2019;61(10):1134-1138. doi:10.1111/dmcn.1421076. Snihirova Y, Linden DEJ, van Amelsvoort T, van der Meer D. Environmental Influences on theRelation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review. Genes (Basel). Nov 2 2022;13(11)doi:10.3390/genes1311200377. Bach S, Shovlin S, Moriarty M, Bardoni B, Tropea D. Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions. Front Cell Neurosci. 2021;15:764761. doi:10.3389/fncel.2021.764761