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Current Pediatric Reviews

Editor-in-Chief

ISSN (Print): 1573-3963
ISSN (Online): 1875-6336

Review Article

Pediatrics for Disability: A Comprehensive Approach to Children with Syndromic Psychomotor Delay

Author(s): Luigi Tarani*, Debora Rasio, Francesca Tarani, Giovanni Parlapiano, Diletta Valentini, Katarzyna Anna Dylag, Alberto Spalice, Roberto Paparella and Marco Fiore*

Volume 18, Issue 2, 2022

Published on: 21 January, 2022

Page: [110 - 120] Pages: 11

DOI: 10.2174/1573396317666211129093426

Price: $65

Abstract

Intellectual disability is the impairment of cognitive, linguistic, motor and social skills that occurs in the pediatric age and is also described by the term “mental retardation”. Intellectual disability occurs in 3-28 % of the general population due to a genetic cause, including chromosome aberrations. Among people with intellectual disabilities, the cause of the disability was identified as a single gene disorder in up to 12 %, multifactorial disorders in up to 4 %, and genetic disorders in up to 8.5 %. Children affected by a malformation syndrome associated with mental retardation or intellectual disability represent a care challenge for the pediatrician. A multidisciplinary team is essential to manage the patient, thereby controlling the complications of the syndrome and promoting the correct psychophysical development. This requires continuous follow-up of these children by the pediatrician, which is essential for both the clinical management of the syndrome and facilitating the social integration of these children.

Keywords: Rare disease, birth defect, genetic syndrome, mental retardation, intellectual disability, pediatric population.

Graphical Abstract

[1]
Pogue RE, Cavalcanti DP, Shanker S, et al. Rare genetic diseases: Update on diagnosis, treatment and online resources. Drug Discov Today 2018; 23(1): 187-95.
[http://dx.doi.org/10.1016/j.drudis.2017.11.002] [PMID: 29129805]
[2]
von der Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: A systematic review of the qualitative literature. Mol Genet Genomic Med 2017; 5(6): 758-73.
[http://dx.doi.org/10.1002/mgg3.315] [PMID: 29178638]
[3]
Wangler MF, Yamamoto S, Chao HT, et al. Model organisms facilitate rare disease diagnosis and therapeutic research. Genetics 2017; 207(1): 9-27.
[http://dx.doi.org/10.1534/genetics.117.203067] [PMID: 28874452]
[4]
Taruscio D, Agresta L, Amato A, et al. The Italian National Centre for Rare Diseases: Where research and public health translate into action. Blood Transfus 2014; 12(Suppl. 3): s591-605.
[http://dx.doi.org/10.2450/2014.0040-14s] [PMID: 24922300]
[5]
Traisman ES. Care of the child with special needs. Pediatr Ann 2015; 44(12): 522-5.
[http://dx.doi.org/10.3928/00904481-20151111-01] [PMID: 26678230]
[6]
Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S. Down syndrome: An insight of the disease’. J Biomed Sci 2015; 22(1): 41.
[http://dx.doi.org/10.1186/s12929-015-0138-y]
[7]
Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. Cornelia de Lange syndrome. Clin Genet 2015; 88(1): 1-12.
[http://dx.doi.org/10.1111/cge.12499] [PMID: 25209348]
[8]
Bhambhani V, Muenke M. Noonan syndrome. Am Fam Physician 2014; 89(1): 37-43.
[PMID: 24444506]
[9]
Goldstone AP, Beales PL. Genetic obesity syndromes. Front Horm Res 2008; 36: 37-60.
[http://dx.doi.org/10.1159/000115336] [PMID: 18230893]
[10]
Kansra AR, Lakkunarajah S, Jay MS. Childhood and adolescent obesity: A review. Front Pediatr 2021; 8: 581461.
[http://dx.doi.org/10.3389/fped.2020.581461] [PMID: 33511092]
[11]
Behl T, Kaur I, Sehgal A, et al. Exploring the genetic conception of obesity via the dual role of FoxO. Int J Mol Sci 2021; 22(6): 1-25.
[http://dx.doi.org/10.3390/ijms22063179] [PMID: 33804729]
[12]
Pirillo A, Casula M, Olmastroni E, Norata GD, Catapano AL. Global epidemiology of dyslipidaemias. Nat Rev Cardiol 2021; 18(10): 689-700.
[http://dx.doi.org/10.1038/s41569-021-00541-4] [PMID: 33833450]
[13]
Tore F, Tonchev A, Fiore M, Tuncel N, Atanassova P, Aloe L. From adipose tissue protein secretion to adipopharmacology of disease. Immunol Endocr Metab Agents Med Chem 2007; 7: 149-55.
[http://dx.doi.org/10.2174/187152207780363712]
[14]
Delrue MA, Michaud JL. Fat chance: Genetic syndromes with obesity. Clin Genet 2004; 66(2): 83-93.
[http://dx.doi.org/10.1111/j.0009-9163.2004.00300.x] [PMID: 15253756]
[15]
Collet TH, Sadaf Farooqi I. Genetic obesity syndromes. Brook’s. Clin Pediatr Endocrinol 2019; 36: 729-36.
[http://dx.doi.org/10.1002/9781119152712.ch18]
[16]
Kaur Y, de Souza RJ, Gibson WT, Meyre D. A systematic review of genetic syndromes with obesity. Obes Rev 2017; 18(6): 603-34.
[http://dx.doi.org/10.1111/obr.12531] [PMID: 28346723]
[17]
Chaldakov GN, Fiore M, Ghenev PI, Stankulov IS, Aloe L. Atherosclerotic lesions: Possible interactive involvement of intima, adventitia and associated adipose tissue. Int Med J 2000; 7: 43-9.
[18]
Lin AE, Basson CT, Goldmuntz E, et al. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med 2008; 10(7): 469-94.
[http://dx.doi.org/10.1097/GIM.0b013e3181772111] [PMID: 18580689]
[19]
Bentham J, Bhattacharya S. Genetic mechanisms controlling cardiovascular development. Ann N Y Acad Sci 2008; 1123: 10-9.
[http://dx.doi.org/10.1196/annals.1420.003] [PMID: 18375573]
[20]
Chaldakov GN, Fiore M, Tonchev AB, Aloe L. Neuroadipology: A novel component of neuroendocrinology. Cell Biol Int 2010; 34(10): 1051-3.
[http://dx.doi.org/10.1042/CBI20100509] [PMID: 20825365]
[21]
Chaldakov GN, Fiore M, Tonchev AB, et al. Homo obesus: A metabotrophin-deficient species. Pharmacology and nutrition insight. Curr Pharm Des 2007; 13(21): 2176-9.
[http://dx.doi.org/10.2174/138161207781039616] [PMID: 17627549]
[22]
Versacci P, Di Carlo D, Digilio MC, Marino B. Cardiovascular disease in Down syndrome. Curr Opin Pediatr 2018; 30(5): 616-22.
[http://dx.doi.org/10.1097/MOP.0000000000000661] [PMID: 30015688]
[23]
Smith AM, Levy PT, Franklin O, Molloy E, El-Khuffash A. Pulmonary hypertension and myocardial function in infants and children with Down syndrome. Arch Dis Child 2020; 105(11): 1031-4.
[http://dx.doi.org/10.1136/archdischild-2019-318178] [PMID: 32160992]
[24]
Sesti F, Pofi R, Pozza C, Minnetti M, Gianfrilli D, Kanakis GA. Cardiovascular complications in patients with Klinefelter’s syndrome. Curr Pharm Des 2020; 26(43): 5556-63.
[http://dx.doi.org/10.2174/1381612826666201102105408] [PMID: 33138758]
[25]
Shiraishi K, Matsuyama H. Klinefelter syndrome: From pediatrics to geriatrics. Reprod Med Biol 2018; 18(2): 140-50.
[http://dx.doi.org/10.1002/rmb2.12261] [PMID: 30996677]
[26]
Spaziani M, Radicioni AF. Metabolic and cardiovascular risk factors in Klinefelter syndrome. Am J Med Genet C Semin Med Genet 2020; 184(2): 334-43.
[http://dx.doi.org/10.1002/ajmg.c.31792] [PMID: 32452627]
[27]
Muscogiuri G, Barrea L, Faggiano F, et al. Obesity in Prader-Willi syndrome: Physiopathological mechanisms, nutritional and pharmacological approaches. J Endocrinol Invest 2021; 44(10): 2057-70.
[http://dx.doi.org/10.1007/s40618-021-01574-9] [PMID: 33891302]
[28]
Vlaardingerbroek H, van den Akker ELT, Hokken-Koelega ACS. Appetite- and weight-inducing and -inhibiting neuroendocrine factors in Prader-Willi syndrome, Bardet-Biedl syndrome and craniopharyngioma versus anorexia nervosa. Endocr Connect 2021; 10(5): R175-88.
[http://dx.doi.org/10.1530/EC-21-0111] [PMID: 33884958]
[29]
Mendiola AJP, LaSalle JM. Epigenetics in Prader-Willi Syndrome. Front Genet 2021; 12: 624581.
[http://dx.doi.org/10.3389/fgene.2021.624581] [PMID: 33659026]
[30]
Bittel DC, Butler MG. Prader-Willi syndrome. Clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 2005; 7(14): 1-20.
[http://dx.doi.org/10.1016/B978-0-12-809324-5.01982-9]
[31]
Miller JL, Tan M. Dietary management for adolescents with Prader-Willi syndrome. Adolesc Health Med Ther 2020; 11: 113-8.
[http://dx.doi.org/10.2147/AHMT.S214893] [PMID: 32922110]
[32]
Rodrigues JM, Fernandes HD, Caruthers C, Braddock SR, Knutsen AP. Cohen syndrome: Review of the literature. Cureus 2018; 10(9): e3330.
[http://dx.doi.org/10.7759/cureus.3330] [PMID: 30473963]
[33]
Douzgou S, Petersen MB. Clinical variability of genetic isolates of Cohen syndrome. Clin Genet 2011; 79(6): 501-6.
[http://dx.doi.org/10.1111/j.1399-0004.2011.01669.x] [PMID: 21418059]
[34]
Langmann A, Lindner S. Cohen syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Eds. Spektrum der Augenheilkd. Seattle, WA 1995; Vol. 9: pp. 218-20.
[http://dx.doi.org/10.1007/BF03163947]
[35]
Cattaneo A, Cogoy L, Macaluso A, Tamburlini G. Child Health in the European Union. European Comission: Brussels, 2012.
[36]
O’Keefe L. Two ‘new’ subspecialties: Neurodevelopmental disabilities, developmental-behavioral pediatrics. AAP News 2002; 20: 188-9.
[37]
Jaeger G, Röjvik A, Berglund B. Participation in society for people with a rare diagnosis. Disabil Health J 2015; 8(1): 44-50.
[http://dx.doi.org/10.1016/j.dhjo.2014.07.004] [PMID: 25164983]
[38]
Mastroiacovo PCA. Proposta di un modello assistenziale per bambini e adolescenti con malattie genetiche e/o disabilità ad elevata complessità assistenziale e per le loro famiglie. SIMGePeD 2007.
[39]
Borbolla D, Taft T, Taber P, Weir CR, Norlin C, Kawamoto K. Understanding primary care providers’ information gathering strategies in the care of children and youth with special health care needs. AMIA Annu Symp Proc 2018; 2018: 272-8.
[40]
An M, Palisano RJ. Family-professional collaboration in pediatric rehabilitation: A practice model. Disabil Rehabil 2014; 36(5): 434-40.
[http://dx.doi.org/10.3109/09638288.2013.797510] [PMID: 23713990]
[41]
Palisano RJ, Chiarello LA, King GA, Novak I, Stoner T, Fiss A. Participation-based therapy for children with physical disabilities. Disabil Rehabil 2012; 34(12): 1041-52.
[http://dx.doi.org/10.3109/09638288.2011.628740] [PMID: 22080765]
[42]
Garrino L, Picco E, Finiguerra I, Rossi D, Simone P, Roccatello D. Living with and treating rare diseases: Experiences of patients and professional health care providers. Qual Health Res 2015; 25(5): 636-51.
[http://dx.doi.org/10.1177/1049732315570116] [PMID: 25667160]
[43]
Hennekam RCM. Costello syndrome: An overview. Am J Med Genet C Semin Med Genet 2003; 117C(1): 42-8.
[http://dx.doi.org/10.1002/ajmg.c.10019] [PMID: 12561057]
[44]
Lima VP, Emerich DR, Mesquita ML, et al. Nutritional intervention with hypocaloric diet for weight control in children and adolescents with Prader-Willi Syndrome. Eat Behav 2016; 21: 189-92.
[http://dx.doi.org/10.1016/j.eatbeh.2016.03.008] [PMID: 26970733]
[45]
Esposito S, Cerutti M, Milani D, Menni F, Principi N. Vaccination coverage of children with rare genetic diseases and attitudes of their parents toward vaccines. Hum Vaccin Immunother 2016; 12(3): 801-5.
[http://dx.doi.org/10.1080/21645515.2015.1086046] [PMID: 26337545]
[46]
Cooper-Brown L, Copeland S, Dailey S, et al. Feeding and swallowing dysfunction in genetic syndromes. Dev Disabil Res Rev 2008; 14(2): 147-57.
[http://dx.doi.org/10.1002/ddrr.19] [PMID: 18646013]
[47]
Kleinert JO. Pediatric feeding disorders and severe developmental disabilities. Semin Speech Lang 2017; 38(2): 116-25.
[http://dx.doi.org/10.1055/s-0037-1599109] [PMID: 28324901]
[48]
Glassman LW, Grocott OR, Kunz PA, et al. Prevalence of gastrointestinal symptoms in Angelman syndrome. Am J Med Genet A 2017; 173(10): 2703-9.
[http://dx.doi.org/10.1002/ajmg.a.38401] [PMID: 28816003]
[49]
Anil MA, Shabnam S, Narayanan S. Feeding and swallowing difficulties in children with Down syndrome. J Intellect Disabil Res 2019; 63(8): 992-1014.
[http://dx.doi.org/10.1111/jir.12617] [PMID: 30950140]
[50]
Blissett J, Harris G, Kirk J. Feeding problems in Silver-Russell syndrome. Dev Med Child Neurol 2001; 43(1): 39-44.
[http://dx.doi.org/10.1017/S0012162201000068] [PMID: 11201421]
[51]
Hennekam RC, Biesecker LG, Allanson JE, et al. Elements of morphology: General terms for congenital anomalies. Am J Med Genet A 2013; 161A(11): 2726-33.
[http://dx.doi.org/10.1002/ajmg.a.36249] [PMID: 24124000]
[52]
Jones KL, Adam MP. Evaluation and diagnosis of the dysmorphic infant. Clin Perinatol 2015; 42(2): 243-61.
[http://dx.doi.org/10.1016/j.clp.2015.02.002] [PMID: 26042903]
[53]
Esmer C, Urraca N, Carnevale A, Del Castillo V. Patient follow-up is a major problem at genetics clinics. Am J Med Genet A 2004; 125A(2): 162-6.
[http://dx.doi.org/10.1002/ajmg.a.20303] [PMID: 14981717]
[54]
Moeschler JB, Shevell M, Schaefer GB, Bull MJ, Enns GM, Gruen JR. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006; 117(6): 2304-16.
[http://dx.doi.org/10.1542/peds.2006-1006] [PMID: 16740881]
[55]
Mittal V. Family-centered rounds. Pediatr Clin North Am 2014; 61(4): 663-70.
[http://dx.doi.org/10.1016/j.pcl.2014.04.003] [PMID: 25084715]
[56]
Setó-Salvia N, Stanier P. Genetics of cleft lip and/or cleft palate: Association with other common anomalies. Eur J Med Genet 2014; 57(8): 381-93.
[http://dx.doi.org/10.1016/j.ejmg.2014.04.003] [PMID: 24768816]
[57]
Graber E, Rapaport R. Growth and growth disorders in children and adolescents. Pediatr Ann 2012; 41(4): e1-9.
[http://dx.doi.org/10.3928/00904481-20120307-07] [PMID: 22494211]
[58]
Carito V, Ceccanti M, Ferraguti G, et al. NGF and BDNF alterations by prenatal alcohol exposure. Curr Neuropharmacol 2019; 17(4): 308-17.
[http://dx.doi.org/10.2174/1570159X15666170825101308] [PMID: 28847297]
[59]
Ceccanti M, Coccurello R, Carito V, et al. Paternal alcohol exposure in mice alters brain NGF and BDNF and increases ethanol-elicited preference in male offspring. Addict Biol 2016; 21(4): 776-87.
[http://dx.doi.org/10.1111/adb.12255] [PMID: 25940002]
[60]
Memo L, Gnoato E, Caminiti S, Pichini S, Tarani L. Fetal alcohol spectrum disorders and fetal alcohol syndrome: The state of the art and new diagnostic tools. Early Hum Dev 2013; 89(Suppl. 1): S40-3.
[http://dx.doi.org/10.1016/S0378-3782(13)70013-6] [PMID: 23809349]
[61]
Ferraguti G, Merlino L, Battagliese G, et al. Fetus morphology changes by second-trimester ultrasound in pregnant women drinking alcohol. Addict Biol 2020; 25(3): e12724.
[http://dx.doi.org/10.1111/adb.12724] [PMID: 30811093]
[62]
Ceccanti M, Iannitelli A, Fiore M. Italian Guidelines for the treatment of alcohol dependence. Riv Psichiatr 2018; 53(3): 105-6.
[http://dx.doi.org/10.1708/2925.29410] [PMID: 29912210]
[63]
Ferraguti G, Ciolli P, Carito V, et al. Ethylglucuronide in the urine as a marker of alcohol consumption during pregnancy: Comparison with four alcohol screening questionnaires. Toxicol Lett 2017; 275: 49-56.
[http://dx.doi.org/10.1016/j.toxlet.2017.04.016] [PMID: 28455000]
[64]
Ciafrè S, Ferraguti G, Greco A, et al. Alcohol as an early life stressor: Epigenetics, metabolic, neuroendocrine and neurobehavioral implications. Neurosci Biobehav Rev 2020; 118: 654-68.
[http://dx.doi.org/10.1016/j.neubiorev.2020.08.018] [PMID: 32976915]
[65]
Coriale G, Fiorentino D, Di Lauro F, et al. Fetal Alcohol Spectrum Disorder (FASD): Neurobehavioral profile, indications for diagnosis and treatment. Riv Psichiatr 2013; 48(5): 359-69.
[http://dx.doi.org/10.1708/1356.15062] [PMID: 24326748]
[66]
Messina MP, D’Angelo A, Battagliese G, et al. Fetal alcohol spectrum disorders awareness in health professionals: Implications for psychiatry. Riv Psichiatr 2020; 55(2): 79-89.
[http://dx.doi.org/10.1708/3333.33022] [PMID: 32202545]
[67]
Coriale G, Fiorentino D, Kodituwakku PW, Tarani L, Parlapiano G, Scalese B. Identification of children with prenatal alcohol exposure. Curr Dev Disord Rep 2014; 1: 141-8.
[http://dx.doi.org/10.1007/s40474-014-0018-2]
[68]
Cole TRP. Sotos syndrome. In: Cassidy SB, Allanson JE, Eds Management of genetic syndromes. Wiley Online Library 2010.
[http://dx.doi.org/10.1002/9780470893159.ch51]
[69]
Katz DM, Bird A, Coenraads M, et al. Rett syndrome: Crossing the threshold to clinical translation. Trends Neurosci 2016; 39(2): 100-13.
[http://dx.doi.org/10.1016/j.tins.2015.12.008] [PMID: 26830113]
[70]
Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman syndrome. Neurotherapeutics 2015; 12(3): 641-50.
[http://dx.doi.org/10.1007/s13311-015-0361-y] [PMID: 26040994]
[71]
Reiss AL. Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics. J Child Psychol Psychiatry 2009; 50(1-2): 87-98.
[http://dx.doi.org/10.1111/j.1469-7610.2008.02046.x] [PMID: 19220592]
[72]
American College of Obstetricians. ACOG Practice bulletin no. 134: fetal growth restriction. Obstet Gynecol 2013; 121(5): 1122-33.
[http://dx.doi.org/10.1097/01.AOG.0000429658.85846.f9] [PMID: 23635765]
[73]
D’Arrigo S, Gavazzi F, Alfei E, et al. The diagnostic yield of array comparative genomic hybridization is high regardless of severity of intellectual disability/developmental delay in children. J Child Neurol 2016; 31(6): 691-9.
[http://dx.doi.org/10.1177/0883073815613562] [PMID: 26511719]
[74]
Marques Matos C, Alonso I, Leão M. Diagnostic yield of next-generation sequencing applied to neurological disorders. J Clin Neurosci 2019; 67: 14-8.
[http://dx.doi.org/10.1016/j.jocn.2019.06.041] [PMID: 31272831]
[75]
Cheon CK, Ko JM. Kabuki syndrome: Clinical and molecular characteristics. Korean J Pediatr 2015; 58(9): 317-24.
[http://dx.doi.org/10.3345/kjp.2015.58.9.317] [PMID: 26512256]
[76]
Hsu P, Ma A, Wilson M, et al. CHARGE syndrome: A review. J Paediatr Child Health 2014; 50(7): 504-11.
[http://dx.doi.org/10.1111/jpc.12497] [PMID: 24548020]
[77]
Basel D, McCarrier J. Ending a diagnostic Odyssey: Family education, counseling, and response to eventual diagnosis. Pediatr Clin North Am 2017; 64(1): 265-72.
[http://dx.doi.org/10.1016/j.pcl.2016.08.017] [PMID: 27894449]
[78]
Vervloessem D, van Leersum F, Boer D, et al. Percutaneous endoscopic gastrostomy (PEG) in children is not a minor procedure: Risk factors for major complications. Semin Pediatr Surg 2009; 18(2): 93-7.
[http://dx.doi.org/10.1053/j.sempedsurg.2009.02.006] [PMID: 19348998]
[79]
Al-Samri M, Mitchell I, Drummond DS, Bjornson C. Tracheostomy in children: A population-based experience over 17 years. Pediatr Pulmonol 2010; 45(5): 487-93.
[http://dx.doi.org/10.1002/ppul.21206] [PMID: 20425857]
[80]
Mihatsch W, Shamir R, van Goudoever JB, et al. ESPGHAN/ESPEN/ESPR/CSPEN guidelines on pediatric parenteral nutrition: Guideline development process for the updated guidelines. Clin Nutr 2018; 37(6 Pt B): 2306-8.
[http://dx.doi.org/10.1016/j.clnu.2018.06.943] [PMID: 30055868]
[81]
Leaf AA. Vitamins for babies and young children. Arch Dis Child 2007; 92(2): 160-4.
[http://dx.doi.org/10.1136/adc.2006.109066] [PMID: 17264286]
[82]
Hoban TF. Sleep disorders in children. Ann N Y Acad Sci 2010; 1184: 1-14.
[http://dx.doi.org/10.1111/j.1749-6632.2009.05112.x] [PMID: 20146688]
[83]
McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children’s hospital. Am J Hum Genet 2004; 74(1): 121-7.
[http://dx.doi.org/10.1086/381053] [PMID: 14681831]
[84]
Bitterman AD, Sponseller PD. Marfan syndrome: A clinical update. J Am Acad Orthop Surg 2017; 25(9): 603-9.
[http://dx.doi.org/10.5435/JAAOS-D-16-00143] [PMID: 28837453]
[85]
Korf BR. Neurofibromatosis. Handb Clin Neurol 2013; 111: 333-40.
[http://dx.doi.org/10.1016/B978-0-444-52891-9.00039-7] [PMID: 23622184]
[86]
Joseph AW, Joseph SS, Francomano CA, Kontis TC. Characteristics, diagnosis, and management of Ehlers-Danlos syndromes: A review. JAMA Facial Plast Surg 2018; 20(1): 70-5.
[http://dx.doi.org/10.1001/jamafacial.2017.0793] [PMID: 29121166]
[87]
Cring MR, Sheffield VC. Gene therapy and gene correction: Targets, progress, and challenges for treating human diseases. Gene Ther 2020; 18: 27.
[http://dx.doi.org/10.1038/s41434-020-00197-8] [PMID: 33037407]
[88]
Rondal JA. From the lab to the people: Major challenges in the biological treatment of Down syndrome. AIMS Neurosci 2021; 8(2): 284-94.
[http://dx.doi.org/10.3934/Neuroscience.2021015] [PMID: 33709029]
[89]
Nakano-Kobayashi A, Awaya T, Kii I, et al. Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice. Proc Natl Acad Sci USA 2017; 114(38): 10268-73.
[http://dx.doi.org/10.1073/pnas.1704143114] [PMID: 28874550]
[90]
Guedj F, Bianchi DW, Delabar JM. Prenatal treatment of Down syndrome: A reality? Curr Opin Obstet Gynecol 2014; 26(2): 92-103.
[http://dx.doi.org/10.1097/GCO.0000000000000056] [PMID: 24573065]
[91]
Ceccanti M, Valentina C, Vitali M, Iannuzzi S, Tarani L, De Nicolo S. Serum BDNF and NGF modulation by olive polyphenols in alcoholics during withdrawal. J Alcohol Drug Depend 2015; 03: 4.
[http://dx.doi.org/10.4172/2329-6488.1000214]
[92]
Carito V, Ceccanti M, Cestari V, et al. Olive polyphenol effects in a mouse model of chronic ethanol addiction. Nutrition 2017; 33: 65-9.
[http://dx.doi.org/10.1016/j.nut.2016.08.014] [PMID: 27908553]
[93]
De Nicoló S, Tarani L, Ceccanti M, et al. Effects of olive polyphenols administration on nerve growth factor and brain-derived neurotrophic factor in the mouse brain. Nutrition 2013; 29(4): 681-7.
[http://dx.doi.org/10.1016/j.nut.2012.11.007] [PMID: 23466052]
[94]
Carito V, Ciafrè S, Tarani L, et al. TNF-α and IL-10 modulation induced by polyphenols extracted by olive pomace in a mouse model of paw inflammation. Ann Ist Super Sanita 2015; 51(4): 382-6.
[http://dx.doi.org/10.4415/ANN-15-04-21] [PMID: 26783228]
[95]
Petrella C, Carito V, Carere C, et al. Oxidative stress inhibition by resveratrol in alcohol-dependent mice. Nutrition 2020; 79-80: 110783.
[http://dx.doi.org/10.1016/j.nut.2020.110783] [PMID: 32569950]
[96]
Carito V, Venditti A, Bianco A, et al. Effects of olive leaf polyphenols on male mouse brain NGF, BDNF and their receptors TrkA, TrkB and p75. Nat Prod Res 2014; 28(22): 1970-84.
[http://dx.doi.org/10.1080/14786419.2014.918977] [PMID: 24865115]
[97]
Carito V, Ceccanti M, Tarani L, Ferraguti G, Chaldakov GN, Fiore M. Neurotrophins’ modulation by olive polyphenols. Curr Med Chem 2016; 23(28): 3189-97.
[http://dx.doi.org/10.2174/0929867323666160627104022] [PMID: 27356540]
[98]
Ceccanti M, De Nicolò S, Mancinelli R, et al. NGF and BDNF long-term variations in the thyroid, testis and adrenal glands of a mouse model of fetal alcohol spectrum disorders. Ann Ist Super Sanita 2013; 49(4): 383-90.
[http://dx.doi.org/10.4415/ANN-13-04-11] [PMID: 24334784]
[99]
De Nicolò S, Carito V, Fiore M, Laviola G. Aberrant behavioral and neurobiologic profiles in rodents exposed to ethanol or red wine early in development. Curr Dev Disord Rep 2014; 1: 173-80.
[http://dx.doi.org/10.1007/s40474-014-0023-5]
[100]
Ceccanti M, Mancinelli R, Tirassa P, et al. Early exposure to ethanol or red wine and long-lasting effects in aged mice. A study on nerve growth factor, brain-derived neurotrophic factor, hepatocyte growth factor, and vascular endothelial growth factor. Neurobiol Aging 2012; 33(2): 359-67.
[http://dx.doi.org/10.1016/j.neurobiolaging.2010.03.005] [PMID: 20382450]
[101]
Fiore M, Mancinelli R, Aloe L, et al. Hepatocyte growth factor, vascular endothelial growth factor, glial cell-derived neurotrophic factor and nerve growth factor are differentially affected by early chronic ethanol or red wine intake. Toxicol Lett 2009; 188(3): 208-13.
[http://dx.doi.org/10.1016/j.toxlet.2009.04.013] [PMID: 19397965]
[102]
Fiore M, Laviola G, Aloe L, di Fausto V, Mancinelli R, Ceccanti M. Early exposure to ethanol but not red wine at the same alcohol concentration induces behavioral and brain neurotrophin alterations in young and adult mice. Neurotoxicology 2009; 30(1): 59-71.
[http://dx.doi.org/10.1016/j.neuro.2008.11.009] [PMID: 19100286]
[103]
Ceci FM, Ferraguti G, Petrella C, et al. Nerve growth factor, stress and diseases. Curr Med Chem 2021; 28(15): 2943-59.
[http://dx.doi.org/10.2174/0929867327999200818111654] [PMID: 32811396]
[104]
Ceci FM, Ferraguti G, Petrella C, et al. Nerve growth factor in alcohol use disorders. Curr Neuropharmacol 2021; 19(1): 45-60.
[http://dx.doi.org/10.2174/1570159X18666200429003239] [PMID: 32348226]
[105]
Chianese R, Coccurello R, Viggiano A, et al. Impact of dietary fats on brain functions. Curr Neuropharmacol 2018; 16(7): 1059-85.
[http://dx.doi.org/10.2174/1570159X15666171017102547] [PMID: 29046155]
[106]
Tarani L, Carito V, Ferraguti G, et al. Neuroinflammatory markers in the serum of prepubertal children with Down syndrome. J Immunol Res 2020; 2020: 6937154.
[http://dx.doi.org/10.1155/2020/6937154] [PMID: 32280719]
[107]
Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW. Down syndrome. Nat Rev Dis Prim 2020; 22: 01.
[http://dx.doi.org/10.1038/s41572-019-0143-7]
[108]
Zapolnik P, Pyrkosz A. Gene therapy for mucopolysaccharidosis type II—a review of the current possibilities. Int J Mol Sci 2021; 22(11): 5490.
[http://dx.doi.org/10.3390/ijms22115490] [PMID: 34070997]
[109]
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 2021; 16(1): 170.
[http://dx.doi.org/10.1186/s13023-021-01727-2] [PMID: 33845862]
[110]
Okuyama J, Seto S, Fukuda Y, et al. Mental health and physical activity among children and adolescents during the COVID-19 pandemic. Tohoku J Exp Med 2021; 253(3): 203-15.
[http://dx.doi.org/10.1620/tjem.253.203] [PMID: 33775993]
[111]
Janke K, Jacola L. Intellectual Disability Syndromes. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Eds. Neuropsychol. Seattle, WA: Cond. Across Lifesp 2018; pp. 61-78.
[http://dx.doi.org/10.1017/9781316996751.005]
[112]
Kurtz PF, Leoni M, Hagopian LP. Behavioral approaches to assessment and early intervention for severe problem behavior in intellectual and developmental disabilities. Pediatr Clin North Am 2020; 67(3): 499-511.
[http://dx.doi.org/10.1016/j.pcl.2020.02.005] [PMID: 32443989]
[113]
Crowe B, Machalicek W, Wei Q, Drew C, Ganz J. Augmentative and alternative communication for children with intellectual and developmental disability: A mega-review of the literature. J Dev Phys Disabil 2021; 23: 07.
[http://dx.doi.org/10.1007/s10882-021-09790-0] [PMID: 33814873]
[114]
Ju XX, Yang J, Liu XX. A systematic review on voiceless patients’ willingness to adopt high-technology augmentative and alternative communication in intensive care units. Intensive Crit Care Nurs 2021; 63: 102948.
[http://dx.doi.org/10.1016/j.iccn.2020.102948] [PMID: 33168384]
[115]
Dietz A, Wallace SE, Weissling K. Revisiting the role of augmentative and alternative communication in aphasia rehabilitation. Am J Speech Lang Pathol 2020; 29(2): 909-13.
[http://dx.doi.org/10.1044/2019_AJSLP-19-00041] [PMID: 32109137]
[116]
Cassidy SB, Allanson JE. Management of Genetic Syndromes. 3rd ed. New Yourk: John Wiley & Sons 2010.
[http://dx.doi.org/10.1002/9780470893159]
[117]
Abzug MJ, Deterding RR, Hay WW, Levin MJ. Current Diagnosis & Treatment: Pediatrics. New Yourk: McGraw-Hill Education 2018.
[118]
Berkowitz CD. Berkowitz’s pediatrics: A primary care approach. Itasca: American Academy of Pediatrics 2011.

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