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1 Bibliografía ABDELGADIR, D.; NOWACZYK, M. J. y LI, C. (2013). Trisomy 22 mosaicism and normal devel- opmental outcome: report of two patients and review of the literature. Am J Med Genet A, 161A(5), 1126-1131. DOI: 10.1002/ajmg.a.35812. ADAMS, D. y OLIVER, C. (2012). The relationship between acquired impairments of executive function and behaviour change in adults with Down syndrome. Journal of Intellectual Dis- ability Research, 54(5), 393-405. AGHAKHANYAN, G.; BONANNI, P.; RANDAZZO, G.; NAPPI, S.; TESSAROTTO, F.; DE MARTÍN, L. y MON- TANARO, D. (2016). From cortical and subcortical grey matter abnormalities to neurobehav- ioral phenotype of Angelman syndrome: A Voxel-based morphometry study. PLoS One, 11(9), e0162817. DOI: 10.1371/journal.pone.0162817. ALEMAN, A.; SWART, M. y V AN RIJN, S. (2008). Brain imaging, genetics and emotion. Biol Psychol, 79(1), 58-69. DOI: 10.1016/j.biopsycho.2008.01.009. ALFIERI, P.; CESARINI, L.; MALLARDI, M.; PICCINI, G.; CACIOLO, C.; LEONI, C. y ZAMPINO, G. (2011). Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade. Behav Genet, 41(3), 423-429. DOI: 10.1007/s10519-011-9446-5. AMERICAN PSYCHIATRIC ASSOCIATION (2013). Diagnostic and statistical manual of mental disorders (5.º ed.). Washington D. C.: Author. ANGKUSTSIRI, K.; LECKLITER, I.; TARTAGLIA, N.; BEATON, E. A.; ENRÍQUEZ, J. y SIMON, T. J. (2012). An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.2 deletion syndrome. J Dev Behav Pediatr, 33(9), 713- 720. DOI: 10.1097/DBP.0b013e318272dd24. ARTIGAS-PALLARES, J.; BRUN-GASCA, C.; GABAU-VILA, E.; GUITART-FELIUBADALO, M. y CAMPRU- BI-SÁNCHEZ, C. (2005). Medical and behavioural aspects of Angelman syndrome. Rev Neu- rol, 41(11), 649-656. ATTOUT, L.; NOEL, M. P.; NASSOGNE, M. C. y ROUSSELLE, L. (2017). The role of short-term mem- ory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syn- drome. PLoS One, 12(2), e0171454. DOI: 10.1371/journal.pone.0171454. BADDELEY, A. (1999). Essentials of Human Memory. Hove: Psychology Press. BAHI-BUISSON, N.; VILLE, D.; EISERMANN, M.; PLOUIN, P.; KAMINSKA, A. y CHIRON, C. (2005). Ep- ilepsy in chromosome aberrations. Archives de Pédiatrie, 12(4), 449-458. DOI: 10.1016/j. arcped.2004.12.016. BAKKER, G.; CAAN, M. W.; VINGERHOETS, W. A.; DA SILVA-ALVES, F.; DE KONING, M.; BOOT, E. y V AN AMELSVOORT, T. A. (2016). Cortical morphology differences in subjects at increased

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1

Bibliografía

AbdelgAdir, d.; NowAczyk, M. J. y li, c. (2013). Trisomy 22 mosaicism and normal devel-opmental outcome: report of two patients and review of the literature. Am J Med Genet A, 161A(5), 1126-1131. DOI: 10.1002/ajmg.a.35812.

AdAMs, d. y oliver, c. (2012). The relationship between acquired impairments of executive function and behaviour change in adults with Down syndrome. Journal of Intellectual Dis-ability Research, 54(5), 393-405.

AghAkhANyAN, g.; boNANNi, P.; rANdAzzo, g.; NAPPi, s.; TessAroTTo, F.; de MArTíN, l. y MoN-TANAro, d. (2016). From cortical and subcortical grey matter abnormalities to neurobehav-ioral phenotype of Angelman syndrome: A Voxel-based morphometry study. PLoS One, 11(9), e0162817. DOI: 10.1371/journal.pone.0162817.

AleMAN, A.; swArT, M. y VAN riJN, s. (2008). Brain imaging, genetics and emotion. Biol Psychol, 79(1), 58-69. DOI: 10.1016/j.biopsycho.2008.01.009.

AlFieri, P.; cesAriNi, l.; MAllArdi, M.; PicciNi, g.; cAciolo, c.; leoNi, c. y zAMPiNo, g. (2011). Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade. Behav Genet, 41(3), 423-429. DOI: 10.1007/s10519-011-9446-5.

AMericAN PsychiATric AssociATioN (2013). Diagnostic and statistical manual of mental disorders (5.º ed.). Washington D. C.: Author.

ANgkusTsiri, k.; leckliTer, i.; TArTAgliA, N.; beAToN, e. A.; eNríquez, J. y siMoN, T. J. (2012). An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.2 deletion syndrome. J Dev Behav Pediatr, 33(9), 713-720. DOI: 10.1097/DBP.0b013e318272dd24.

ArTigAs-PAllAres, J.; bruN-gAscA, c.; gAbAu-vilA, e.; guiTArT-FeliubAdAlo, M. y cAMPru-bi-sáNchez, c. (2005). Medical and behavioural aspects of Angelman syndrome. Rev Neu-rol, 41(11), 649-656.

ATTouT, l.; Noel, M. P.; NAssogNe, M. c. y rousselle, l. (2017). The role of short-term mem-ory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syn-drome. PLoS One, 12(2), e0171454. DOI: 10.1371/journal.pone.0171454.

bAddeley, A. (1999). Essentials of Human Memory. Hove: Psychology Press.bAhi-buissoN, N.; ville, d.; eiserMANN, M.; PlouiN, P.; kAMiNskA, A. y chiroN, c. (2005). Ep-

ilepsy in chromosome aberrations. Archives de Pédiatrie, 12(4), 449-458. DOI: 10.1016/j.arcped.2004.12.016.

bAkker, g.; cAAN, M. w.; viNgerhoeTs, w. A.; DA silvA-Alves, F.; De koNiNg, M.; booT, e. y VAN AMelsvoorT, T. A. (2016). Cortical morphology differences in subjects at increased

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vulnerability for developing a psychotic disorder: A comparison between subjects with ultra-high risk and 22q11.2 deletion syndrome. PLoS One, 11(11), e0159928. DOI: 10.1371/journal.pone.0159928.

bAll, s.; hollANd, T.; huPPerT, F. A.; TrePPNer, P. y dood, K. (2006). CAMDEX-DS-The Cam-bridge Examination for Mental Disorders of Older People with Down´s Syndrome and Others with Intellectual Disabilities. Cambridge: Cambridge University Press.

bANkA, s.; lederer, d.; beNoiT, v.; JeNkiNs, e.; howArd, e.; buNsToNe, s. y doNNAi, d. (2015). Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabu-ki syndrome (KS2). Clin Genet, 87(3), 252-258. DOI: 10.1111/cge.12363.

bANkA, s.; veerAMAchANeNi, r.; reArdoN, w.; howArd, e.; buNsToNe, s.; rAgge, N. y doNNAi, d. (2012). How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 pa-tients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet, 20(4), 381-388. DOI: 10.1038/ejhg.2011.220.

bArber, J. c.; buNyAN, d.; curTis, M.; robiNsoN, d.; MorloT, s.; derMiTzel, A. y MAloNey, v. k. (2010). 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families. Mol Cytogenet, 3(3). DOI: 10.1186/1755-8166-3-3.

bArry, M. (1991). Interactions of drugs with alcohol. Practitioner, 235(1500), 270-272. bATTAgliA, A.; cArey, J. c. y souTh, s. T. (1993). Wolf-Hirschhorn syndrome. En r. A. PAgoN,

M. P. AdAM, h. h. ArdiNger, s. e. wAllAce, A. AMeMiyA, l. J. h. beAN, T. d. bird, c. T. FoNg, h. c. MeFFord, r. J. h. sMiTh y k. sTePheNs (eds.), GeneReviews(R). Seattle (WA): University of Washington.

bATTAgliA, A.; hoyMe, h. e.; dAllAPiccolA, b.; zAckAi, e.; hudgiNs, l.; McdoNAld- McgiNN, d. y cArey, J. c. (2008). Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics, 121(2), 404-410. DOI: 10.1542/peds.2007-0929.

beArdeN, c. e.; JAwAd, A. F.; lyNch, d. r.; MoNTerossso, J. r.; sokol, s.; McdoNAld-Mc-giNN, d. M. y siMoN, T. J. (2005). Effects of COMT genotype on behavioral symptom-atology in the 22q11.2 deletion syndrome. Child Neuropsychol, 11(1), 109-117. DOI: 10.1080/09297040590911239.

bello, s. y rodríguez-MoreNo, A. (2016). An updated review of 1p36 deletion (monosomy) syndrome. Rev Chil Pediatr. DOI: 10.1016/j.rchipe.2015.12.004.

beNAvides-PiccioNe, r.; bAllesTeros-yáNez, M.; De lAgrAN, M. M.; elsToN, g.; esTivill, X.; FillAT, c. y diersseN, M.(2004). On dendrites in Down syndrome and DS murine models: a spiny way to learn. Progress in neurobiology, 74(2), 111-126.

beNTivegNA, A.; MilANi, d.; gervAsiNi, c.; cAsTroNovo, P.; MoTTAdelli, F.; MANziNi, s. y lA-rizzA, l. (2006). Rubinstein-Taybi syndrome: Spectrum of CREBBP mutations in Italian patients. BMC Med Genet, 7, 77. DOI: 10.1186/1471-2350-7-77.

berke, P.; silver, A. M. y kuPPerMAN, h. s. (1953). Effect of aureomycin upon growth and ma-turation of Lebistes reticulatus. Proc Soc Exp Biol Med, 84(1), 32-34.

bi, w.; cheuNg, s. w.; breMAN, A. M. y bAciNo, c. A. (2016). 4p16.3 microdeletions and micro-duplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet A, 170(10), 2540-2550. DOI: 10.1002/ajmg.a.37796.

Page 3: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Bibliografía

3

biswAs, A. b. y FurNiss, F. (2016). Cognitive phenotype and psychiatric disorder in 22q11.2 dele-tion syndrome: A review. Res Dev Disabil, 53-54, 242-257. DOI: 10.1016/j.ridd.2016.02.010.

blANco-lAgo, r.; MálAgA, i.; gArcíA-PeñAs, J. J. y gArcíA-roN, A. (2013). Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process. Rev Neurol, 57(2), 49-56.

boAdA, r.; JANusz, J.; huTAFF-lee, c. y TArTAgliA, N. (2009). The cognitive phenotype in kline-felter syndrome: A review of the literature including genetic and hormonal factors. Develop-mental Disabilities Research Reviews, 15(4), 284-294. DOI: 10.1002/ddrr.83.

boNAgliA, M. c.; giordA, r.; beri, s.; de AgosTiNi, c.; NovArA, F.; FicherA, M. y zuFFArdi, o. (2011). Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet, 7(7), e1002173. DOI: 10.1371/journal.pgen.1002173.

boNAssi, e. y rigArdeTTo, r. (1975). Rehabilitation aspects in Rubinstein-Taybi syndrome. Re-port of 4 clinical cases. Minerva Pediatr, 27(4), 218-228.

brANdeNburg-goddArd, M. N.; VAN riJN, s.; roMbouTs, s. A.; veer, i. M. y swAAb, h. (2014). A comparison of neural correlates underlying social cognition in Klinefelter syndrome and autism. Soc Cogn Affect Neurosci, 9(12), 1926-1933. DOI: 10.1093/scan/nst190.

brAy, s.; duNkiN, b.; hoNg, d. s. y reiss, A. l. (2011). Reduced functional connectivity during working memory in Turner syndrome. Cereb Cortex, 21(11), 2471-2481. DOI: 10.1093/cercor/bhr017.

breuNiNg, M. h.; dAuwerse, h. g.; FugAzzA, g.; sAris, J. J.; sPruiT, l.; wiJNeN, h. y heN-NekAM, r. c. (1993). Rubinstein-Taybi syndrome caused by submicroscopic deletions with-in 16p13.3. Am J Hum Genet, 52(2), 249-254.

bryANT, d. M.; hoeFT, F.; lAi, s.; lAckey, J.; roelTgeN, d.; ross, J. y reiss, A. l. (2011). Neu-roanatomical phenotype of Klinefelter syndrome in childhood: a voxel-based morphometry study. J Neurosci, 31(18), 6654-6660. DOI: 10.1523/jneurosci.5899-10.2011.

burke, s. y MArAMAldi, P. (2017). Variability in clinical and anatomical manifestation of ve-locardiofacial syndrome presents diagnostic and policy uncertainty. Fetal Pediatr Pathol, 36(1), 33-41. DOI: 10.1080/15513815.2016.1231248.

cAPoNe, M.; FAbrizio, M.; cAsTellANi, c. y TosATTi, e. (2002). Strongly correlated superconduc-tivity. Science, 296(5577), 2364-2366.

cArlesiMo, g.; MAroTTA, l. y vicAri, s. (1997). Long-term memory in mental retardation: Evi-dence for a specific impairment in subjects with Down’s syndrome. Neuropsychologia, 35, 71-79.

ceredA, A. y cArey, J. c. (2012). The trisomy 18 syndrome. Orphanet J Rare Dis, 7, 81. DOI: 10.1186/1750-1172-7-81.

cerruTi MAiNArdi, P. (2006). Cri du chat syndrome. Orphanet J Rare Dis, 1, 33. DOI: 10.1186/1750-1172-1-33.

chAPMAN, r.; heskeTh, l. y kisTler, d. (2002). Predicting longitudinal change in language pro-duction and comprehension in individuals with Down syndrome: Hierarchical linear model-ing. Journal of Speech Language and Hearing Research, 45, 902-915.

Page 4: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Neuropsicología de la discapacidad intelectual de origen genético

4

cheN, J. M.; cooPer, d. N. y Ferec, c. (2011). Local DNA sequence determinants of FUT2 copy number variation. Transfusion, 51(6), 1359-1361. DOI: 10.1111/j.1537-2995.2011.03080.x.

cheoN, c. k. y ko, J. M. (2015). Kabuki syndrome: Clinical and molecular characteristics. Ko-rean J Pediatr, 58(9), 317-324. DOI: 10.3345/kjp.2015.58.9.317.

cheoN, c. k.; sohN, y. b.; ko, J. M.; lee, y. J.; soNg, J. s.; MooN, J. w. y JeoNg, s. y. (2014). Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. J Hum Genet, 59(6), 321-325. DOI: 10.1038/jhg.2014.25jhg201425.

chiurAzzi, P.; schwArTz, c. e.; gecz, J. y Neri, g. (2008). XLMR genes: update 2007. Eur J Hum Genet, 16(4), 422-434. DOI: 10.1038/sj.ejhg.5201994.

chow, e. w.; ho, A.; wei, c.; voorMoleN, e. h.; crAwley, A. P. y bAsseTT, A. s. (2011). As-sociation of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric defi-cits in the superior temporal gyrus. Am J Psychiatry, 168(5), 522-529. DOI: 10.1176/appi.ajp.2010.10081230.

church, d. M.; beNgTssoN, u.; NielseN, k. v.; wAsMuTh, J. J. y Niebuhr, e. (1995). Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet, 56(5), 1162-1172.

church, d. M.; yANg, J.; bociAN, M.; shiANg, r. y wAsMuTh, J. J. (1997). A high-resolution physical and transcript map of the cri du chat region of human chromosome 5p. Genome Res, 7(8), 787-801.

coe, b. P.; wiThersPooN, k.; roseNFeld, J. A.; VAN boN, b. w.; vulTo-vAN silFhouT, A. T.; bos-co, P. y eichler, e. e. (2014). Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet, 46(10), 1063-1071. DOI: 10.1038/ng.3092.

colover, J.; lucAs, M.; coMley, J. A. y roe, A. M. (1972). Neurological abnormalities in the cri du chat syndrome. J Neurol Neurosurg Psychiatry, 35(5), 711-719.

cooPer, g. M.; coe, b. P.; girirAJAN, s.; roseNFeld, J. A.; vu, T. h.; bAker, c. y eichler, e. e. (2011). A copy number variation morbidity map of developmental delay. Nat Genet, 43(9), 838-846. DOI: 10.1038/ng.909.

cooPer, g. M. y MeFFord, h. c. (2011). Detection of copy number variation using SNP genotyp-ing. Methods Mol Biol, 767, 243-252. DOI: 10.1007/978-1-61779-201-4_18.

cooPer, s. A.; sMiley, e.; MorrisoN, J.; williAMsoN, A. y AllAN, l. (2007). Mental ill-health in adults with intellectual disabilities: Prevalence and associated factors. Br J Psychiatry, 190, 27-35. DOI: 10.1192/bjp.bp.106.022483.

coPeT, P.; JAuregi, J.; lAurier, v.; ehliNger, v.; ArNAud, c.; cobo, A. M. y ThuilleAuX, d. (2010). Cognitive profile in a large french cohort of adults with Prader-Willi syndrome: Dif-ferences between genotypes. Journal of Intellectual Disability Research, 54, 204-215. DOI: 10.1111/j.1365-2788.2010.01251.x.

corNish, k. M.; MuNir, F. y cross, g. (2001). Differential impact of the FMR-1 full mutation on memory and attention functioning: a neuropsychological perspective. J Cogn Neurosci, 13(1), 144-150.

Page 5: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Bibliografía

5

cosTANzo, F.; vAruzzA, c.; MeNghiNi, d.; AddoNA, F.; giANesiNi, T. y vicAri, s. (2013). Exe-cutive functions in intellectual disabilities: A comparison between Williams syndrome and Down syndrome. Res Dev Disabil, 34(5), 1770-1780. DOI: 10.1016/j.ridd.2013.01.024.

couPry, i.; roudAuT, c.; sTeF, M.; delrue, M. A.; MArche, M.; burgeliN, i. y Arveiler, b. (2002). Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet, 39(6), 415-421.

de sMedT, b.; devrieNdT, k.; FryNs, J. P.; vogels, A.; gewillig, M. y swilleN, A. (2007). Inte-llectual abilities in a large sample of children with velocardiofacial syndrome: An update. J Intellect Disabil Res, 51(Pt 9), 666-670. DOI: 10.1111/j.1365-2788.2007.00955.x.

De sMiTh, A. J.; PurMANN, c.; wAlTers, r. g.; ellis, r. J.; holder, s. e.; vAN hAelsT, M. M. y blAkeMore, A. i. (2009). A deletion of the HBII-85 class of small nucleolar RNAs (snoR-NAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet, 18(17), 3257-3265. DOI: 10.1093/hmg/ddp263ddp263.

delisi, l. e.; MAurizio, A. M.; sveTiNA, c.; ArdekANi, b.; szulc, k.; NiereNberg, J. y hArvey, P. d. (2005). Klinefelter’s syndrome (XXY) as a genetic model for psychotic disorders. Am J Med Genet B Neuropsychiatr Genet, 135b(1), 15-23. DOI: 10.1002/ajmg.b.30163.

diersseN, M. y rAMAkers, g. (2006). Dendritic pathology in mental retardation: from molecular genetics to neurobiology. Genes, Brain and Behavior, 2 (s2), 48-60.

edgiN, J. o.; MAsoN, g. M.; AllMAN, M. J.; cAPoNe, g. T.; deleoN, i.; MAsleN, c. y NAdel, l. (2010). Development and validation of the Arizona cognitive test battery for Down syndro-me. Journal of Neurodevelopmental Disorders, 2(3), 149-164. DOI: 10.1007/s11689-010-9054-3.

egger, J. i. M.; zwANeNburg, r. J.; VAN rAveNswAAiJ-ArTs, c. M. A.; kleeFsTrA, T. y verhoe-veN, w. M. A. (2016). Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy. Genes Brain and Behavior, 15(4), 395-404. DOI: 10.1111/gbb.12285.

eliez, s.; blAsey, c. M.; schMiTT, e. J.; whiTe, c. d.; hu, d. y reiss, A. l. (2001). Velocardio-facial syndrome: Are structural changes in the temporal and mesial temporal regions related to schizophrenia? Am J Psychiatry, 158(3), 447-453. DOI: 10.1176/appi.ajp.158.3.447.

ellisoN, J. w.; roseNFeld, J. A. y shAFFer, l. g. (2013). Genetic basis of intellectual disability. Annu Rev Med, 64, 441-450. DOI: 10.1146/annurev-med-042711-140053.

esPiriTo sANTo, l. d.; MoreirA, l. M. y riegel, M. (2016). Cri du chat syndrome: clinical profile and chromosomal microarray analysis in six patients. Biomed Res Int, 2016, 5467083. DOI: 10.1155/2016/5467083.

esTebA-cAsTillo, s.; cAiXàs, A. y deus, J. (2015). Neuropsicología del trastorno del desarrollo intelectual con y sin origen genético (Tesis doctoral). Bellaterra: Universidad Autónoma de Barcelona.

esTebA-cAsTillo, s.; dAlMAu-bueNo, A.; ribAs-vidAl, N.; vilà-AlsiNA, M.; Novell-AlsiNA, r. y gArcíA-AlbA, J. (2013). Adaptation and validation of CAMDEX-DS (Cambridge Exami-nation for Mental Disorders of Older People with Down’s Syndrome and Others with Intel-lectual Disabilities) in Spanish population with intellectual disabilities. Rev Neurol, 57(8), 337-346.

Page 6: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Neuropsicología de la discapacidad intelectual de origen genético

6

esTebA-cAsTillo, s.; PeñA-cAsANovA, J.; gArcíA-AlbA, J.; cAsTellANos, M. A.; TorreNTs-ro-dAs, d.; rodríguez, e. y Novell-AlsiNA, r. (2017). Barcelona test for intellectual disability: A new instrument for the neuropsychological assessment of adults with intellectual disabil-ity. Rev Neurol, 64(10), 433-444.

FeJgiN, k.; NielseN, J.; birkNow, M. r.; bAsTluNd, J. F.; NielseN, v.; lAuridseN, J. b. y didri-kseN, M. (2014). A mouse model that recapitulates cardinal features of the 15q13.3 micro-deletion syndrome including schizophrenia and epilepsy related alterations. Biol Psychiatry, 76(2), 128-137. DOI: 10.1016/j.biopsych.2013.08.014.

FeNoll, r.; PuJol, J.; esTebA-cAsTillo, s.; de solA, s.; ribAs-vidAl, N.; gArcíA-AlbA, J.; … diersseN, M. (2017). Anomalous White Matter Structure and the Effect of Age in Down Syndrome Patients. Journal of Alzheimer’s Disease, 57(1), 61-70.

FerNáNdez-olAriA, r. y gràciA gArcíA, M. (2013). Lenguaje expresivo y memoria verbal a corto plazo u operativa (working memory) en las personas con síndrome de Down. Revista Síndrome de Down, 30, 122-132.

Ferreiros-MArTíNez, r.; lóPez-MANzANAres, l. y AloNso-cerezo, c. (2014). Accidental finding of a cri du chat syndrome in an adult patient by means of array-CGH. Rev Neurol, 59(2), 71-76.

FiNsTerer, J. (2012). Cognitive dysfunction in mitochondrial disorders. Acta Neurologica Scan-dinavica, 126(1), 1-11. DOI: 10.1111/j.1600-0404.2012.01649.x.

Fisch, g. s.; cArPeNTer, N.; howArd-Peebles, P. N.; holdeN, J. J. A.; TArleToN, J.; siMeNseN, r. y bATTAgliA, A. (2012). Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile. Ajidd-American Jour-nal on Intellectual and Developmental Disabilities, 117(2), 167-179. DOI: 10.1352/1944-7558-117.2.167.

Fisher, M. h.; leNse, M. d. y dykeNs, e. M. (2016). Longitudinal trajectories of intellectual and adaptive functioning in adolescents and adults with Williams syndrome. J Intellect Disabil Res, 60(10), 920-932. DOI: 10.1111/jir.12303.

Florez, l. y lAcAssie, y. (2005). Mosaic trisomy 22: report of a patient with normal intelligence. Am J Med Genet A, 132a(2), 223-225. DOI: 10.1002/ajmg.a.30401.

FoliN, M.; bAiguerA, s.; coNcoNi, M.; PATi, T.; grANdi, c.; PArNigoTTo, P. y NussdorFer g.g. (2003). The impact of risk factors of Alzheimer’s disease in the Down syndrome. Interna-tional Journal of molecular medicine, 11(2), 267-270.

FoNg, k. w.; ghAi, s.; Toi, A.; blAser, s.; wiNsor, e. J. y chiTAyAT, d. (2004). Prenatal ultra-sound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging. Ultrasound Obstet Gynecol, 24(7), 716-723. DOI: 10.1002/uog.1777.

gAlAburdA, A. M. y bellugi, u. (2000). V. Multi-level analysis of cortical neuroanatomy in Williams syndrome. J Cogn Neurosci, 12 Suppl 1, 74-88.

gArAyzAbAl heiNze, e.; leNs villAverde, M.; MoruNo lóPez, e.; coNde MAgro, T.; MourA, l. F.; FerNáNdez, M. y sAMPAio, A. (2011). General cognitive functioning and psycholinguistic abilities in children with Smith-Magenis syndrome. Psicothema, 23(4), 725-731.

Page 7: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Bibliografía

7

gArcíA, J.; PorTellANo, J. A. y díAz, F. (2011). Aspectos neuropsicológicos y hemodinámicos en el síndrome de Down. Nuevas aportaciones. Revista Síndrome de Down: Revista Española de Investigación e Información sobre el Síndrome de Down, 107, 149-158.

gArcíA-AlbA, J.; esTebA-cAsTillo, s.; cAsTellANos lóPez, M. A.; rodríguez hidAlgo, e.; ribAs vidAl, N.; MoldeNhAuer díAz, F. y Novell-AlsiNA, r. (2017). Validation and normalization of the Tower of London-Drexel University test 2nd Edition in an adult population with inte-llectual disability. Span J Psychol, 20, E32. DOI: 10.1017/sjp.2017.30.

gArcíA-AlbA, J. g.; Pérez, J. P. y Pérez, J. g. (2011). Estudio comparativo neuropsicológico en edad infantil y adulta y diferencias de género en síndrome de Down. Revista Española de Pediatría, 67(1), 22-27.

gArdiNer, k.; chiTAyAT, d.; chouFANi, s.; shuMAN, c.; blAser, s.; TeresPolsky, d. y weksberg, r. (2012). Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Am J Med Genet A, 158a(6), 1388-1394. DOI: 10.1002/ajmg.a.35358.

gAuThier, J.; chAMPAgNe, N.; lAFreNiere, r. g.; XioNg, l.; sPiegelMAN, d.; brusTeiN, e. y rou-leAu, g. A. (2010). De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci USA, 107(17), 7863-7868. DOI: 10.1073/pnas.09062321070906232107.

gAuThier, s.; reisberg, b.; zAudig, M.; PeTerseN, r.; riTchie, k.; broich, k. y wiNblAd, b. (2006). On behalf of the participants of the International Psychogeriatric Association Expert Conference on Mild Cognitive Impairment. Mild cognitive impairment. Lancet, 367(9518).

gersh, M.; goodArT, s. A.; PAszTor, l. M.; hArris, d. J.; weiss, l. y overhAuser, J. (1995). Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet, 56(6), 1404-1410.

giAcobbe, A.; AJMoNe, P. F.; MilANi, d.; AvigNoNe, s.; Triulzi, F.; gervAsiNi, c. y cosTANTiNo, M. A. (2016). Electroclinical phenotype in Rubinstein-Taybi syndrome. Brain Dev, 38(6), 563-570. DOI: 10.1016/j.braindev.2015.12.003.

giAMPieTro, P. F.; bAbu, d.; zAbel, c. A.; silberMAN, T.; zAdor, i.; debAuche, d. y dAve, b. J. (2006). Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity. Am J Med Genet A, 140(4), 385-387. DOI: 10.1002/ajmg.a.31067.

giedd, J. N.; clAseN, l. s.; wAllAce, g. l.; leNrooT, r. k.; lerch, J. P.; wells, e. M. y sAMAN-go-sProuse, c. A. (2007). XXY (Klinefelter syndrome): A pediatric quantitative brain mag-netic resonance imaging case-control study. Pediatrics, 119(1), e232-240. DOI: 10.1542/peds.2005-2969.

gilleNTiNe, M. A. y schAAF, c. P. (2015). The human clinical phenotypes of altered CHR-NA7 copy number. Biochem Pharmacol, 97(4), 352-362. DOI: 10.1016/j.bcp.2015.06.012S0006-2952(15)00328-7.

goidTs, v.; cooPer, d. N.; ArMeNgol, l.; scheMPP, w.; coNroy, J.; esTivill, X. y kehrer-sAwATzki, h. (2006). Complex patterns of copy number variation at sites of segmental du-plications: An important category of structural variation in the human genome. Hum Genet, 120(2), 270-284. DOI: 10.1007/s00439-006-0217-y.

Page 8: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Neuropsicología de la discapacidad intelectual de origen genético

8

goNg, X.; JiANg, y. w.; zhANg, X.; AN, y.; zhANg, J.; wu, y. y wANg, h. (2012). High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability. PLoS One, 7(4), e34739. DOI: 10.1371/journal.pone.0034739.

good, c. d.; lAwreNce, k.; ThoMAs, N. s.; Price, c. J.; AshburNer, J.; FrisToN, k. J. y skuse, d. h. (2003). Dosage-sensitive X-linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans. Brain, 126(Pt 11), 2431-2446. DOI: 10.1093/brain/awg242.

goThelF, d.; FurFAro, J. A.; hoeFT, F.; eckerT, M. A.; hAll, s. s.; o’hArA, r. y reiss, A. l. (2008). Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP). Ann Neurol, 63(1), 40-51. DOI: 10.1002/ana.21243.

greeN, T.; Fierro, k. c.; rAMAN, M. M.; FolANd-ross, l.; hoNg, d. s. y reiss, A. l. (2016). Sex differences in amygdala shape: Insights from Turner syndrome. Human Brain Mapping, 37(4), 1593-1601. DOI: 10.1002/hbm.23122.

groPMAN, A. l.; duNcAN, w. c. y sMiTh, A. c. (2006). Neurologic and developmental featu-res of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol, 34(5), 337-350. DOI: 10.1016/j.pediatrneurol.2005.08.018.

hAAs, b. w.; bArNeA-gorAly, N.; lighTbody, A. A.; PATNAik, s. s.; hoeFT, F.; hAzleTT, h. y reiss, A. L. (2009). Early white-matter abnormalities of the ventral frontostriatal path-way in fragile X syndrome. Dev Med Child Neurol, 51(8), 593-599. DOI: 10.1111/j.1469-8749.2009.03295.x.

hAberechT, M. F.; MeNoN, v.; wArsoFsky, i. s.; whiTe, c. d.; dyer-FriedMAN, J.; glover, g. h. y reiss, A. l. (2001). Functional neuroanatomy of visuo-spatial working memory in Turner syndrome. Hum Brain Mapp, 14(2), 96-107.

hAcihAMdioglu, b.; hAcihAMdioglu, d. y delil, k. (2015). 22q11 deletion syndrome: Current perspective. Appl Clin Genet, 8, 123-132. DOI: 10.2147/TACG.S82105tacg-8-123.

hArTiNg, i.; seiTz, A.; rATiNg, d.; sArTor, k.; zschocke, J.; JANsseN, b. y wolF, N. i. (2009). Ab-normal myelination in Angelman syndrome. Eur J Paediatr Neurol, 13(3), 271-276. DOI: 10.1016/j.ejpn.2008.04.005.

heArd, T. T.; rAMgoPAl, s.; Picker, J.; liNcolN, s. A.; roTeNberg, A. y koThAre, s. v. (2014). EEG abnormalities and seizures in genetically diagnosed fragile X syndrome. Int J Dev Neurosci, 38, 155-160. DOI: 10.1016/j.ijdevneu.2014.07.002.

heilsTedT, h. A.; burgess, d. l.; ANdersoN, A. e.; chedrAwi, A.; ThArP, b.; lee, o. y shAPirA, s. k. (2001). Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. Epilepsia, 42(9), 1103-1111.

heNNekAM, r. c.; TilANus, M.; hAMel, b. c.; voshArT-vAN heereN, h.; MAriMAN, e. c.; vAN beersuM, s. e. y breuNiNg, M. h. (1993). Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: Clinical aspects. Am J Hum Genet, 52(2), 255-262.

hockiNg, d. r.; reeve, J. y PorTer, M. A. (2015). Characterising the profile of everyday ex-ecutive functioning and relation to IQ in adults with Williams syndrome: Is the BRIEF adult version a valid rating scale? PLoS One, 10(9), e0137628. DOI: 10.1371/journal.pone.0137628.

Page 9: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Bibliografía

9

hodAPP, r. y dykeNs, e. (2005). Measuring behavior in genetic disorders of mental retardation. Mental Retardation Develomental Disability Research Review, 11, 340-46.

hoNeA, r. A.; holseN, l. M.; lePPiNg, r. J.; PereA, r.; buTler, M. g.; brooks, w. M. y sAvAge, c. r. (2012). The neuroanatomy of genetic subtype differences in Prader-Willi syn-drome. Am J Med Genet B Neuropsychiatr Genet, 159b(2), 243-253. DOI: 10.1002/ajmg.b.32022.

hoNg, d. s.; brAy, s.; hAAs, b. w.; hoeFT, F. y reiss, A. l. (2014). Aberrant neurocognitive processing of fear in young girls with Turner syndrome. Soc Cogn Affect Neurosci, 9(3), 255-264. DOI: 10.1093/scan/nss133.

hoNg, d.; keNT, J. s. y kesler, s. (2009). Cognitive profile of Turner syndrome. Developmental Disabilities Research Reviews, 15(4), 270-278. DOI: 10.1002/ddrr.79.

hooPer, s. r.; hATToN, d.; sideris, J.; sullivAN, k.; hAMMer, J.; schAAF, J. y bAiley, d. P.; Jr. (2008). Executive functions in young males with fragile X syndrome in comparison to mental age-matched controls: Baseline findings from a longitudinal study. Neuropsychology, 22(1), 36-47. DOI: 10.1037/0894-4105.22.1.36.

iAFrATe, A. J.; Feuk, l.; riverA, M. N.; lisTewNik, M. l.; doNAhoe, P. k.; qi, y. y lee, c. (2004). Detection of large-scale variation in the human genome. Nat Genet, 36(9), 949-951. DOI: 10.1038/ng1416ng1416.

iTTi, e.; gAw goNzAlo, i. T.; PAwlikowskA-hAddAl, A.; booNe, k. b.; MlikoTic, A.; iTTi, l. y swerdloFF, r. s. (2006). The structural brain correlates of cognitive deficits in adults with Klinefelter’s syndrome. J Clin Endocrinol Metab, 91(4), 1423-1427. DOI: 10.1210/jc.2005-1596.

JArviNeN, A.; koreNberg, J. r. y bellugi, u. (2013). The social phenotype of Williams syndro-me. Curr Opin Neurobiol, 23(3), 414-422. DOI: 10.1016/j.conb.2012.12.006.

JAuregi, J.; AriAs, c.; vegAs, o.; AleN, F.; MArTíNez, s.; coPeT, P. y ThuilleAuX, d. (2007). A neuropsychological assessment of frontal cognitive functions in Prader-Willi syndrome. J Intellect Disabil Res, 51(Pt 5), 350-365. DOI: 10.1111/j.1365-2788.2006.00883.x.

kAuFMANN, w.; cAPoNe, g.; clArke, M. y budiMirovic, d. (2008). Autism in genetic intellectual disability. In Autism, 81-108.

kehrer-sAwATzki, h. y cooPer, d. N. (2008a). Comparative analysis of copy number variation in primate genomes. Cytogenet Genome Res, 123(1-4), 288-296. DOI: 10.1159/000184720.

— (2008b). Copy number variation and disease. Preface. Cytogenet Genome Res, 123(1-4), 5-6. DOI: 10.1159/000184686.

kishiNo, T.; lAlANde, M. y wAgsTAFF, J. (1997). UBE3A/E6-AP mutations cause Angelman sy-ndrome. Nat Genet, 15(1), 70-73. DOI: 10.1038/ng0197-70.

kNickMeyer, r. c. y bAroN-coheN, s. (2006). Fetal testosterone and sex differences in typi-cal social development and in autism. J Child Neurol, 21(10), 825-845. DOI: 10.1177/ 08830738060210101601.

kNighT-JoNes, e.; kNighT, s.; heussler, h.; regAN, r.; FliNT, J. y MArTiN, k. (2000). Neurode-velopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3. Dev Med Child Neurol, 42(3), 201-206.

korAN, M. e.; hohMAN, T. J.; edwArds, c. M.; vegA, J. N.; Pryweller, J. r.; slosky, l. e. y ThorNToN-wells, T. A. (2014). Differences in age-related effects on brain volume in Down

Page 10: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Neuropsicología de la discapacidad intelectual de origen genético

10

syndrome as compared to Williams syndrome and typical development. J Neurodev Disord, 6(1), 8. DOI: 10.1186/1866-1955-6-8.

krisToFFerseN, k. e. (2008). Speech and language development in cri du chat syndrome: A criti-cal review. Clin Linguist Phon, 22(6), 443-457. DOI: 10.1080/02699200801892108.

lAgrAN, M. d. (2008). El envejecimiento en el síndrome de Down: Dyrk1A como gen candidato para el declive cognitivo. Revista Médica Internacional sobre Síndrome de Down, 12, 34-40.

lANFrANchi, s.; corNoldi, c. y viANello, r. (2004). Verbal and visuospatial working memory deficits in children with Down syndrome. American Journal on Mental Retardation, 109, 456-66.

lederer, d.; grisArT, b.; digilio, M. c.; beNoiT, v.; cresPiN, M.; ghAriANi, s. c. y verelleN-du-MouliN, c. (2012). Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet, 90(1), 119-124. DOI: 10.1016/j.ajhg.2011.11.021S0002-9297(11)00499-X.

lee, N. r.; wAllAce, g. l.; clAseN, l. s.; leNrooT, r. k.; bluMeNThAl, J. d.; whiTe, s. l. y giedd, J. N. (2011). Executive function in young males with Klinefelter (XXY) syndrome with and without comorbid attention-deficit/hyperactivity disorder. J Int Neuropsychol Soc, 17(3), 522-530. DOI: 10.1017/s1355617711000312.

lehMAN, N.; MAzery, A. c.; visier, A.; bAuMANN, c.; lAchesNAis, d.; cAPri, y. y geNeviève, d. (2017). Molecular, clinical and neuropsychological study in 31 patients with Kabuki syn-drome and KMT2D mutations. Clin Genet, 92(3), 298-305. DOI: 10.1111/cge.13010.

leJeuNe, J.; lAFourcAde, J.; berger, r.; viAlATTe, J.; boeswillwAld, M.; seriNge, P. y TurPiN, r. (1963). 3 Cases of Partial Deletion of the Short Arm of a 5 Chromosome. C R Hebd Seances Acad Sci, 257, 3098-3102.

lePAge, J. F.; duNkiN, b.; hoNg, d. s. y reiss, A. l. (2013). Impact of cognitive profile on so-cial functioning in prepubescent females with Turner syndrome. Child Neuropsychol, 19(2), 161-172. DOI: 10.1080/09297049.2011.647900.

lew, c. h.; browN, c.; bellugi, u. y seMeNdeFeri, k. (2016). Neuron density is decreased in the prefrontal cortex in Williams syndrome. Autism Res. DOI: 10.1002/aur.1677.

lewis, b.; FulToN, s.; shorT, e.; NelsoN, s.; loMbArdi, g.; roseNbAuM, d. y siNger, l. T. (2007). A longitudinal case study of a child with mosaic trisomy 22: Language, cognitive, behavioral, physical, and dental outcomes. American Journal of Medical Genetics Part A, 143A(17), 2070-2074. DOI: 10.1002/ajmg.a.31866.

li, y.; bogershAuseN, N.; AlANAy, y.; siMsek kiPer, P. o.; PluMe, N.; keuPP, k. y wollNik, b. (2011). A mutation screen in patients with Kabuki syndrome. Hum Genet, 130(6), 715-724. DOI: 10.1007/s00439-011-1004-y

lowe, c. y rAbbiTT, P. (1998). Test/re-test reliability of the CANTAB and ISPOCD neuropsycho-logical batteries: Theoretical and practical issues. Neuropsychologia, 36(9), 915-923. DOI: 10.1016/s0028-3932(98)00036-0.

lu, q.; AguilAr, b. J.; li, M.; JiANg, y. y cheN, y. h. (2016). Genetic alterations of delta-catenin/NPRAP/Neurojungin (CTNND2): Functional implications in complex human diseases. Hum Genet, 135(10), 1107-1116. DOI: 10.1007/s00439-016-1705-310.1007/s00439-016-1705-3.

luPski, J. r. (2007). Genomic rearrangements and sporadic disease. Nat Genet, 39(7), S43-47. DOI: 10.1038/ng2084.

Page 11: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Bibliografía

11

luriA, A. (1973). Osnovu neiropsijologii (Fundamentos de la neuropsicología). Moscú: Edicio-nes de la Universidad de Moscú.

MAbb, A. M.; JudsoN, M. c.; zylkA, M. J. y PhilPoT, b. d. (2011). Angelman syndrome: Insights into genomic imprinting and neurodevelopmental phenotypes. Trends Neurosci, 34(6), 293-303. DOI: 10.1016/j.tins.2011.04.001S0166-2236(11)00056-7.

MAgoulAs, P. l.; liu, P.; gelowANi, v.; soler-AlFoNso, c.; kivuvA, e. c.; luPski, J. r. y Po-Tocki, l. (2014). Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A, 164a(2), 500-504. DOI: 10.1002/ajmg.a.36287.

MANgeoT, s. d.; Miller, l. J.; MciNTosh, d. N.; McgrATh-clArke, J.; siMoN, J.; hAgerMAN, r. J. y goldsoN, e. (2001). Sensory modulation dysfunction in children with attention-deficit-hyperactivity disorder. Dev Med Child Neurol, 43(6), 399-406.

MANN, d.; yATes, P. y MArcyNiuk, b. (1986). The nucleus basalis of Meynert in multi-infarct (vascular) dementia. Acta neuropathologica, 71 (3-4), 332-337.

MArgAllo-lANA, M.; bAllArd, c.; Morris, c.; kAy, d. y Tyrer, s. (2003). Cognitive decline in Down syndrome. Archives of Neurology, 60, 1024.

MArTíNez, s. (2011). Bases neurobiológicas del desarrollo y maduración cerebral en personas con síndrome de Down. X Jornadas Internacionales sobre el Síndrome de Down.

MArshAll, A. T. (2010). Impact of chromosome 4p-syndrome on communication and expressi-ve language skills: A preliminary investigation. Language Speech and Hearing Services in Schools, 41(3), 265-276. DOI: 10.1044/0161-1461(2009/08-0098).

MATsoN, J. l.; sMiroldo, b. b.; hAMilToN, M. y bAglio, c. s. (1997). Do anxiety disorders exist in persons with severe and profound mental retardation? Res Dev Disabil, 18(1), 39-44.

MAyA, i.; viNkler, c.; koNeN, o.; korNreich, l.; sTeiNberg, T.; yeshAyA, J. y bAris, h. N. (2014). Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome. Am J Med Genet A, 164a(8), 1940-1946. DOI: 10.1002/ajmg.a.36583.

MAzzolA, F.; seigAl, A.; MAcAskill, A.; cordeN, b.; lAwreNce, k. y skuse, d. h. (2006). Eye tracking and fear recognition deficits in Turner syndrome. Soc Neurosci, 1(3-4), 259-269. DOI: 10.1080/17470910600989912.

McclArreN, J.; doNNeNFeld, A. e. y rAvNAN, J. b. (2006). Prenatal diagnosis of an unexpect-ed interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion. Prenat Diagn, 26(13), 1212-1215. DOI: 10.1002/pd.1590.

McduFFie, A.; AbbeduTo, l.; lewis, P.; kover, s.; kiM, J. s.; weber, A. y browN, w. T. (2010). Autism spectrum disorder in children and adolescents with fragile X syndrome: Within-syndrome differences and age-related changes. Am J Intellect Dev Disabil, 115(4), 307-326. DOI: 10.1352/1944-7558-115.4.307.

McNAMArA, g. i.; dAvis, b. A.; dwyer, d. M.; JohN, r. M. y isles, A. r. (2016). Behavioural abnormalities in a novel mouse model for Silver Russell syndrome. Hum Mol Genet, 25(24), 5407-5417. DOI: 10.1093/hmg/ddw357.

MediNA, M.; MAriNescu, r. c.; overhAuser, J. y kosik, k. s. (2000). Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri du chat syndrome. Genomics, 63(2), 157-164. DOI: 10.1006/geno.1999.6090S0888-7543(99)96090-1.

Page 12: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Neuropsicología de la discapacidad intelectual de origen genético

12

Meguid, N. A.; FAhiM, c.; sAMi, r.; NAshAAT, N. h.; yooN, u.; ANwAr, M. y evANs, A. c. (2012). Cognition and lobar morphology in full mutation boys with fragile X syndrome. Brain Cogn, 78(1), 74-84. DOI: 10.1016/j.bandc.2011.09.005.

MeNghiNi, d.; cosTANzo, F. y vicAri, s. (2011). Relationship between brain and cognitive proces-ses in Down syndrome. Behavior Genetics, 41 (3), 381-393.

MicheleTTi, s.; PAlesTrA, F.; MArTelli, P.; Accorsi, P.; gAlli, J.; giordANo, l. y FAzzi, e. (2016). Neurodevelopmental profile in Angelman syndrome: More than low intelligence quotient. Ital J Pediatr, 42. DOI: 10.1186/s13052-016-0301-4.

MilANi, d.; MANzoNi, F. M.; PezzANi, l.; AJMoNe, P.; gervAsiNi, c.; MeNNi, F. y esPósiTo, s. (2015). Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and manage-ment. Ital J Pediatr, 41, 4. DOI: 10.1186/s13052-015-0110-1.

Miller, d. T.; AdAM, M. P.; ArAdhyA, s.; biesecker, l. g.; broThMAN, A. r.; cArTer, N. P. y led-beTTer, d. h. (2010). Consensus statement: Chromosomal microarray is a first-tier clinical di-agnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet, 86(5), 749-764. DOI: 10.1016/j.ajhg.2010.04.006.

MiyAke, N.; MizuNo, s.; okAMoTo, N.; ohAshi, h.; shiiNA, M.; ogATA, k. y MATsuMoTo, N. (2013). KDM6A point mutations cause Kabuki syndrome. Hum Mutat, 34(1), 108-110. DOI: 10.1002/humu.22229.

MoessNer, r.; MArshAll, c. r.; suTcliFFe, J. s.; skAug, J.; PiNTo, d.; viNceNT, J. y scherer, s. w. (2007). Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet, 81(6), 1289-1297. DOI: 10.1086/522590.

Morris, J. k.; MuTToN, d. e. y AlberMAN, e. (2005). Recurrences of free trisomy 21: analysis of data from the National Down Syndrome Cytogenetic Register. Prenat Diagn, 25(12), 1120-1128. DOI: 10.1002/pd.1292.

MulliNs, o. y sheu, e. (2013). Structures and dynamics of asphaltenes. Nueva York: Springer Science and Business Media.

MusuMeci, s. A.; hAgerMAN, r. J.; Ferri, r.; bosco, P.; dAllA berNArdiNA, b.; TAssiNAri, c. A. y eliA, M. (1999). Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia, 40(8), 1092-1099.

NANdhAgoPAl, r. y udAyAkuMAr, A. M. (2014). Cri du chat syndrome. Indian J Med Res, 140(4), 570-571.

NeAl, J.; APse, k.; sAhiN, M.; wAlsh, c. A. y sheeN, v. l. (2006). Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. Am J Med Genet A, 140(15), 1692-1695. DOI: 10.1002/ajmg.a.31334.

NeirA-FresNedA, J. y PoTocki, l. (2015). Neurodevelopmental disorders associated with abnor-mal gene dosage: Smith-Magenis and Potocki-Lupski syndromes. J Pediatr Genet, 4(3), 159-167. DOI: 10.1055/s-0035-1564443.

Noeker, M. y wollMANN, h. A. (2004). Cognitive development in Silver-Russell syndrome: A sibling-controlled study. Dev Med Child Neurol, 46(5), 340-346.

oliver, c. y AdAMs, d. (2008). Normative data for the neuropsychological assessment of demen-tia in adults with intellectual disability (NAID). Journal of Intellectual Disability Research, 52, 647-647.

Page 13: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Bibliografía

13

olszewski, A. k.; kikiNis, z.; goNzález, c. s.; coMAN, i. l.; MAkris, N.; goNg, X. y kATes, w. r. (2017). The social brain network in 22q11.2 deletion syndrome: a diffusion tensor ima-ging study. Behav Brain Funct, 13(1), 4. DOI: 10.1186/s12993-017-0122-7.

osborNe, l. r.; MArTiNdAle, d.; scherer, s. w.; shi, X. M.; huizeNgA, J.; heNg, h. h. y Tsui, l. c. (1996). Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics, 36(2), 328-336. DOI: 10.1006/geno.1996.0469.

osorio, A.; cruz, r.; sAMPAio, A.; gArAyzAbAl, e.; cArrAcedo, A. y FerNáNdez-PrieTo, M. (2012). Cognitive functioning in children and adults with Smith-Magenis syndrome. Eur J Med Genet, 55(6-7), 394-399. DOI: 10.1016/j.ejmg.2012.04.001.

osorio, A.; soAres, J. M.; PrieTo, M. F.; vAscoNcelos, c.; FerNáNdes, c.; sousA, s. y sAMPAio, A. (2014). Cerebral and cerebellar MRI volumes in Williams syndrome. Research in Deve-lopmental Disabilities, 35(4), 922-928. DOI: 10.1016/j.ridd.2013.12.014.

ou, z.; sTANkiewicz, P.; XiA, z.; breMAN, A. M.; dAwsoN, b.; wiszNiewskA, J. y cheuNg, s. w. (2011). Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res, 21(1), 33-46. DOI: 10.1101/gr.111609.110gr.111609.110.

overhAuser, J.; huANg, X.; gersh, M.; wilsoN, w.; McMAhoN, J.; beNgTssoN, u. y wAsMuTh, J. J. (1994). Molecular and phenotypic mapping of the short arm of chromosome 5: Subloca-lization of the critical region for the cri-du-chat syndrome. Hum Mol Genet, 3(2), 247-252.

PATToN, M. A. (1988). Russell-Silver syndrome. J Med Genet, 25(8), 557-560. PeNg, d. X.; kelley, r. g.; quiNTiN, e. M.; rAMAN, M.; ThoMPsoN, P. M. y reiss, A. l. (2014).

Cognitive and behavioral correlates of caudate subregion shape variation in fragile X syn-drome. Hum Brain Mapp, 35(6), 2861-2868. DOI: 10.1002/hbm.22376.

PeñA-cAsANovA, J.; JuNcAdellA, M. y sAbidó, F. (1983). Introducción a los síndromes de deterio-ro neuropsicológico. En J. PeñA y l. bArrAquer, Neuropsicología. Barcelona: Toray.

PeTerseN, r. (2004). Mild cognitive impairment as a diagnostic entity. Journal of Internal Medi-cine, 256 (3), 183-194.

PeTriJ, F.; giles, r. h.; dAuwerse, h. g.; sAris, J. J.; heNNekAM, r. c.; MAsuNo, M. y et al. (1995). Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature, 376(6538), 348-351. DOI: 10.1038/376348a0.

PhilPoT, b. d.; ThoMPsoN, c. e.; FrANco, l. y williAMs, c. A. (2011). Angelman syndrome: Advancing the research frontier of neurodevelopmental disorders. J Neurodev Disord, 3(1), 50-56. DOI: 10.1007/s11689-010-9066-z.

PierPoNT, e. i.; Tworog-dube, e. y roberTs, A. e. (2013). Learning and memory in children with Noonan syndrome. Am J Med Genet A, 161a(9), 2250-2257. DOI: 10.1002/ajmg.a.36075.

PiNTer, J.; browN, w.; eliez, s.; schMiTT, J.; cAPoNe, g. y reiss, A. (2001). Amygdala and hip-pocampal volumes in children with Down syndrome: A high-resolution MRI study. Neurol-ogy, 56 (7), 972-974.

Pohovski, l. M.; duMic, k. k.; odAk, l. y bArisic, i. (2013). Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormali-ties in patients with developmental delay/intellectual disability. Mol Cytogenet, 6(1), 7. DOI: 10.1186/1755-8166-6-7.

Page 14: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Neuropsicología de la discapacidad intelectual de origen genético

14

PoTocki, l.; bi, w.; TreAdwell-deeriNg, d.; cArvAlho, c. M.; eiFerT, A.; FriedMAN, e. M. y luPski, J. r. (2007). Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet, 80(4), 633-649. DOI: 10.1086/512864.

PuJol, J.; blANco-hiNoJo, l.; esTebA-cAsTillo, s.; cAiXàs, A.; hArrisoN, b. J.; bueNo, M. y Novell-AlsiNA, r. (2016). Anomalous basal ganglia connectivity and obsessive-compulsive behaviour in patients with Prader Willi syndrome. J Psychiatry Neurosci, 41(4), 261-271.

rAvNAN, J. b.; TePPerberg, J. h.; PAPeNhAuseN, P.; lAMb, A. N.; hedrick, J.; eAsh, d. y MArTiN, c. l. (2006). Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet, 43(6), 478-489. DOI: 10.1136/jmg.2005.036350.

rezAie, r.; dAly, e. M.; cuTTer, w. J.; MurPhy, d. g.; roberTsoN, d. M.; delisi, l. e. y ro-berTs, N. (2009). The influence of sex chromosome aneuploidy on brain asymmetry. Am J Med Genet B Neuropsychiatr Genet, 150b(1), 74-85. DOI: 10.1002/ajmg.b.30772.

rodríguez, l.; zolliNo, M.; cliMeNT, s.; MANsillA, e.; lóPez-groNdoNA, F.; MArTíNez-FerNáN-dez, M. l. y MArTíNez-FríAs, M. l. (2005). The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): A description of a second case. Am J Med Genet A, 136(2), 175-178. DOI: 10.1002/ajmg.a.30775.

roeloFs, r. l.; wiNgberMuhle, e.; Freriks, k.; verhAAk, c. M.; kessels, r. P. y egger, J. i. (2015). Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes. Am J Med Genet A, 167a(4), 768-776. DOI: 10.1002/ajmg.a.37006.

rolls, e. T. (2005). Taste, olfactory, and food texture processing in the brain, and the control of food intake. Physiol Behav, 85(1), 45-56. DOI: 10.1016/j.physbeh.2005.04.012.

roNdAl, J. (2006). Dificultades del lenguaje en el síndrome de Down: perspectiva a lo largo de la vida y principios de intervención. Revista Síndrome de Down, 23, 120-128.

ross, J. l.; roelTgeN, d. P.; sTeFANATos, g.; beNecke, r.; zeger, M. P.; kushNer, h. y ziNN, A. r. (2008). Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet A, 146a(6), 708-719. DOI: 10.1002/ajmg.a.32232.

rougeulle, c.; glATT, h. y lAlANde, M. (1997). The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet, 17(1), 14-15. DOI: 10.1038/ng0997-14.

rubiNsTeiN, J. h. y TAybi, h. (1963). Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child, 105, 588-608.

russell, A. (1954). A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med, 47(12), 1040-1044.

sAhoo, T.; Del gAudio, d.; gerMAN, J. r.; shiNAwi, M.; PeTers, s. u.; PersoN, r. e. y beAudeT, A. l. (2008). Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet, 40(6), 719-721. DOI: 10.1038/ng.158ng.158.

schAAF, c. P. (2014). Nicotinic acetylcholine receptors in human genetic disease. Genet Med, 16(9), 649-656. DOI: 10.1038/gim.2014.9gim20149.

Page 15: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Bibliografía

15

scherr, J. F.; hAhN, l. J.; hooPer, s. r.; hATToN, d. y roberTs, J. e. (2016). HPA axis function predicts development of working memory in boys with FXS. Brain Cogn, 102, 80-90. DOI: 10.1016/j.bandc.2015.12.002.

sebAT, J.; lAkshMi, b.; MAlhoTrA, d.; Troge, J.; lese-MArTiN, c.; wAlsh, T. y wigler, M. (2007). Strong association of de novo copy number mutations with autism. Science, 316(5823), 445-449. DOI: 10.1126/science.1138659.

sebAT, J.; lAkshMi, b.; Troge, J.; AleXANder, J.; youNg, J.; luNdiN, P. y wigler, M. (2004). Large-scale copy number polymorphism in the human genome. Science, 305(5683), 525-528. DOI: 10.1126/science.1098918305/5683/525.

selkoe, d. (2001). Alzheimer’s disease: Genes, proteins, and therapy. Physiological reviews, 81 (2), 741-766.

shArP, A. J.; MeFFord, h. c.; li, k.; bAker, c.; skiNNer, c.; sTeveNsoN, r. e. y eichler, e. e. (2008). A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet, 40(3), 322-328. DOI: 10.1038/ng.93ng.93.

shAw, c. J.; wiThers, M. A. y luPski, J. r. (2004). Uncommon deletions of the Smith-Mage-nis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. Am J Hum Genet, 75(1), 75-81. DOI: 10.1086/422016S0002-9297(07)61995-8.

shchegloviTov, A.; shchegloviTovA, o.; yAzAwA, M.; PorTMANN, T.; shu, r.; sebAsTiANo, v. y dolMeTsch, r. e. (2013). SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. Nature, 503(7475), 267-271. DOI: 10.1038/na-ture12618.

sheAFFer, A. T.; lANge, e. y boNdy, c. A. (2008). Sexual function in women with Turner syndro-me. J Womens Health (Larchmt), 17(1), 27-33. DOI: 10.1089/jwh.2007.0488.

silver, h. k.; kiyAsu, w.; george, J. y deAMer, w. c. (1953). Syndrome of congenital he-mihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics, 12(4), 368-376.

silver, M. (1953a). Observations on the effect of aminopterin on hormonally induced growth. J Endocrinol, 9(3), 29-30.

— (1953b). The onset of allometric mammary growth in the female hooded Norway rat. J En-docrinol, 10(1), 35-45.

siMM, P. J. y zAchAriN, M. r. (2006). The psychosocial impact of Klinefelter syndrome: A 10 year review. J Pediatr Endocrinol Metab, 19(4), 499-505.

siMMoNs, A. d.; Puschel, A. w.; McPhersoN, J. d.; overhAuser, J. y loveTT, M. (1998). Mole-cular cloning and mapping of human semaphorin F from the cri du chat candidate interval. Biochem Biophys Res Commun, 242(3), 685-691. DOI: 10.1006/bbrc.1997.8027.

skAkkebAek, A.; grAvholT, c. h.; rAsMusseN, P. M.; boJeseN, A.; JeNseN, J. s.; Fedder, J. y wAlleNTiN, M. (2014). Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile. Neuroimage-Clinical, 4, 1-9. DOI: 10.1016/j.nicl.2013.10.013.

slAger, r. e.; NewToN, T. l.; vlANgos, c. N.; FiNucANe, b. y elseA, s. h. (2003). Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet, 33(4), 466-468. DOI: 10.1038/ng1126ng1126.

Page 16: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Neuropsicología de la discapacidad intelectual de origen genético

16

sMiTh, l. e.; bArker, e. T.; selTzer, M. M.; AbbeduTo, l. y greeNberg, J. s. (2012). Behavioral phenotype of fragile X syndrome in adolescence and adulthood. Am J Intellect Dev Disabil, 117(1), 1-17. DOI: 10.1352/1944-7558-117.1.1.

sobiN, c.; kiley-brAbeck, k.; dANiels, s.; khuri, J.; TAylor, l.; bluNdell, M. y kArAyiorgou, M. (2005). Neuropsychological characteristics of children with the 22q11 deletion syndrome: A descriptive analysis. Child Neuropsychol, 11(1), 39-53. DOI: 10.1080/09297040590911167.

sooryA, l.; kolevzoN, A.; zweiFAch, J.; liM, T.; dobry, y.; schwArTz, l. y buXbAuM, J. d. (2013). Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism, 4(1), 18. DOI: 10.1186/2040-2392-4-18.

souTh, s. T.; whiTby, h.; bATTAgliA, A.; cArey, J. c. y broThMAN, A. r. (2008). Comprehen-sive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet, 16(1), 45-52. DOI: 10.1038/sj.ejhg.5201915.

sTeiNMAN, k.; ross, J.; lAi, s.; reiss, A. y hoeFT, F. (2009). Structural and functional neuroim-aging in Klinefelter (47,XXY) syndrome: A review of the literature and preliminary results from a functional magnetic resonance imaging study of language. Dev Disabil Res Rev, 15(4), 295-308. DOI: 10.1002/ddrr.84.

sTeMkeNs, d.; rozA, T.; verriJ, l.; swAAb, h.; vAN werkhoveN, M. k.; AlizAdeh, b. z. y gil-TAy, J. c. (2006). Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases. Clin Genet, 70(1), 43-48. DOI: 10.1111/j.1399-0004.2006.00635.x.

szATMAri, P.; PATersoN, A. d.; zwAigeNbAuM, l.; roberTs, w.; briAN, J.; liu, X. q. y Meyer, k. J. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet, 39(3), 319-328. DOI: 10.1038/ng1985.

TANNeNbAuM, A. y silversToNe, h. (1953). The genesis and growth of tumors. VI. Effects of varying the level of minerals in the diet. Cancer Res, 13(6), 460-463.

TArTAgliA, M.; zAMPiNo, g. y gelb, b. d. (2010). Noonan syndrome: clinical aspects and mo-lecular pathogenesis. Mol Syndromol, 1(1), 2-26. DOI: 10.1159/000276766276766.

TAssoNe, F.; hAgerMAN, r. J.; ikle, d. N.; dyer, P. N.; lAMPe, M.; willeMseN, r. y TAylor, A. k. (1999). FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet, 84(3), 250-261.

TeiPel, s. y hAMPel, h. (2006). Neuroanatomy of Down syndrome in vivo: A model of preclini-cal Alzheimer’s disease. Behavior genetics, 36 (3), 405-415.

TeMPle, c. M. (2002). Oral fluency and narrative production in children with Turner’s syndrome. Neuropsychologia, 40(8), 1419-1427.

ThAPAr, A. y cooPer, M. (2013). Copy number variation: What is it and what has it told us about child psychiatric disorders? J Am Acad Child Adolesc Psychiatry, 52(8), 772-774. DOI: 10.1016/j.jaac.2013.05.013.

ThoMAs, l. e.; wiNsToN, J.; rAd, e.; MorT, M.; dodd, k. M.; Tee, A. r. y uPAdhyAyA, M. (2015). Evaluation of copy number variation and gene expression in neurofibromatosis type-1-as-sociated malignant peripheral nerve sheath tumours. Hum Genomics, 9, 3. DOI: 10.1186/s40246-015-0025-3.

Page 17: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Bibliografía

17

ToMMeruP, N.; VAN der hAgeN, c. b. y heiberg, A. (1992). Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). Am J Med Genet, 44(2), 237-241. DOI: 10.1002/ajmg.1320440223.

TurPiN, r. y leJeuNe, J. (1963). Psychopathological Consequences of Human Chromosome Ab-normalities. Bibl Paediatr, 81, 33-43.

VAN AMelsvoorT, T.; dAly, e.; roberTsoN, d.; suckliNg, J.; Ng, v.; criTchley, h. y MurPhy, d. g. (2001). Structural brain abnormalities associated with deletion at chromosome 22q11: Quantitative neuroimaging study of adults with velocardiofacial syndrome. Br J Psychiatry, 178, 412-419.

VAN der MoleN, M. J. (2010). Working memory structure in 10- and 15-year old children with mild to borderline intellectual, disabilities. Res Dev Disabil, 31(6), 1258-1263. DOI: 10.1016/j.ridd.2010.07.019.

vAN lAArhoveN, P. M.; NeiTzel, l. r.; quiNTANA, A. M.; geiger, e. A.; zAckAi, e. h.; clouThier, d. e. y shAikh, T. h. (2015). Kabuki syndrome genes KMT2D and KDM6A: Functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet, 24(15), 4443-4453. DOI: 10.1093/hmg/ddv180.

VAN riJN, s.; swAAb, h.; AleMAN, A. y kAhN, r. s. (2008). Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome. J Autism Dev Disord, 38(9), 1634-1641. DOI: 10.1007/s10803-008-0542-1.

vegA, J. N.; hohMAN, T. J.; Pryweller, J. r.; dykeNs, e. M. y ThorNToN-wells, T. A. (2015). Resting-state functional connectivity in individuals with Down syndrome and Williams syn-drome compared with typically developing controls. Brain Connect, 5(8), 461-475. DOI: 10.1089/brain.2014.0266.

wAgA, c.; okAMoTo, N.; oNdo, y.; FukuMurA-kATo, r.; goTo, y.; kohsAkA, s. y uchiNo, s. (2011). Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development. Psychiatr Genet, 21(4), 208-211. DOI: 10.1097/YPG.0b013e328341e069.

wAiTe, J.; beck, s. r.; heAld, M.; Powis, l. y oliver, c. (2016). Dissociation of cross-sectional trajectories for verbal and visuo-spatial working memory development in Rubinstein-Taybi syndrome. J Autism Dev Disord, 46(6), 2064-2071. DOI: 10.1007/s10803-016-2736-2.

wAlley, r. M. y doNAldsoN, M. d. (2005). An investigation of executive function abilities in adults with Prader-Willi syndrome. J Intellect Disabil Res, 49(Pt 8), 613-625. DOI: 10.1111/j.1365-2788.2005.00717.x.

wANg, A. T.; liM, T.; JAMisoN, J.; bush, l.; sooryA, l. v.; TAvAssoli, T. y kolevzoN, A. (2016). Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome. Journal of Neurodevelopmental Disorders, 8. DOI: 10.1186/s11689-016-9138-9.

wANg, X.; Xu, q.; bey, A. l.; lee, y. y JiANg, y. h. (2014). Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic het-erogeneity of SHANK3 causing autism and Shank3 mutant mice. Mol Autism, 5, 30. DOI: 10.1186/2040-2392-5-302040-2392-5-30.

whiTe, N.; Alkire, M. y hAier, r. (2003). A voxel-based morphometric study of nondemented adults with Down syndrome. Neuroimage, 20, 393-403.

Page 18: 51 neuropsicología de la discapacidad intelectual de origen … · 2018. 3. 5. · Neuropsicología de la discapacidad intelectual de origen genético 2 vulnerability for developing

Neuropsicología de la discapacidad intelectual de origen genético

18

wilbArger, P. y wilbArger, J. (2002). The Wilbarger approach to treating sensory defensive-ness. En A. buNdy, s. lANde y E. MurrAy (eds.), Sensory Integration: Theory and Practice. Filadelfia: F. A. Davis.

willeMseN, M. h. y kleeFsTrA, T. (2014). Making headway with genetic diagnostics of intel-lectual disabilities. Clin Genet, 85(2), 101-110. DOI: 10.1111/cge.12244.

williAMs, c. A. (2005). Neurological aspects of the Angelman syndrome. Brain Dev, 27(2), 88-94. DOI: 10.1016/j.braindev.2003.09.014.

williAMs, M. y shelleNberger, S. (1994). The alert program for self-regulation. Sensory Inte-gration Special Interst Section Newletter, 17, 3.

wilsoN, b. J.; suNdArAM, s. k.; huq, A. h.; JeoNg, J. w.; hAlversoN, s. r.; beheN, M. e. y chugANi, h. T. (2011). Abnormal language pathway in children with Angelman syndrome. Pediatr Neurol, 44(5), 350-356. DOI: 10.1016/j.pediatrneurol.2010.12.002.

wiNgberMuhle, e.; roeloFs, r. l.; vAN der burgT, i.; soureN, P. M.; verhoeveN, w. M.; kessels, r. P. y egger, J. i. (2012). Cognitive functioning of adults with Noonan syndrome: A case-control study. Genes Brain Behav, 11(7), 785-793. DOI: 10.1111/j.1601-183X.2012.00821.x.

yAMAdA, k.; MATsuzAwA, h.; uchiyAMA, M.; kwee, i. l. y NAkAdA, T. (2006). Brain develop-mental abnormalities in Prader-Willi syndrome detected by diffusion tensor imaging. Pedi-atrics, 118(2), e442-448. DOI: 10.1542/peds.2006-0637.

zAiN, s. M.; MohAMed, r.; cooPer, d. N.; rAzAli, r.; rAMPAl, s.; MAhAdevA, s. y MohAMed, z. (2014). Genome-wide analysis of copy number variation identifies candidate gene loci associated with the progression of non-alcoholic fatty liver disease. PLoS One, 9(4), e95604. DOI: 10.1371/journal.pone.0095604PONE-D-13-53751.

zerr, T.; cooPer, g. M.; eichler, e. e. y NickersoN, d. A. (2010). Targeted interrogation of copy number variation using SCIMMkit. Bioinformatics, 26(1), 120-122. DOI: 10.1093/bioinformatics/btp606.

zhANg, A.; zheNg, c.; hou, M.; liNdvAll, c.; li, k. J.; erlANdssoN, F. y Xu, d. (2003). Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in cri du chat syndrome. Am J Hum Genet, 72(4), 940-948. DOI: 10.1086/374565.

zhu, l.; wANg, X.; li, X. l.; Towers, A.; cAo, X.; wANg, P. y JiANg, y. h. (2014). Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders. Hum Mol Genet, 23(6), 1563-1578. DOI: 10.1093/hmg/ddt547ddt547.

ziATs, M. N.; goiN-kochel, r. P.; berry, l. N.; Ali, M.; ge, J. y guFFey, d. (2016). The com-plex behavioral phenotype of 15q13.3 microdeletion syndrome. 18(11), 1111-1118. DOI: 10.1038/gim.2016.9.

zolliNo, M.; lecce, r.; FischeTTo, r.; Murdolo, M.; FArAvelli, F.; selicorNi, A. y Neri, g. (2003). Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet, 72(3), 590-597. DOI: 10.1086/367925.

zolliNo, M.; Murdolo, M.; MArANgi, g.; Pecile, v.; gAlAsso, c.; MAzzANTi, l. y Neri, g. (2008). On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype cor-relation analysis of 80 patients and literature review. American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 148C(4), 257-269. DOI: 10.1002/ajmg.c.30190.